Difference between revisions of "Hemochromatosis HGMD SNP TABLE"

From Bioinformatikpedia
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-AGC
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGGc-AGC
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" | Arg-Ser
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Wigg (2003) Gut 52, 433
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=12584229&amp;dopt=Abstract Wigg (2003) Gut 52, 433]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-ATG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1999) Hum Mol Genet 8, 1517
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10401000&amp;dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-ATG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1999) Hum Mol Genet 8, 1517
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10401000&amp;dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAT-CAC
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CATg-CAC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ?
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ?
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1998) Hum Genet 102 127
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://springerlink.metapress.com/openurl.asp?genre=journal&amp;issn=0340-6717 de Villiers (1998) Hum Genet 102 127]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAT-GAT
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCAT-GAT
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Feder (1996) Nat Genet 13, 399
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=8696333&amp;dopt=Abstract Feder (1996) Nat Genet 13, 399]
 
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGT-TGT
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gAGT-TGT
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Mura (1999) Blood 93, 2502
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10194428&amp;dopt=Abstract Mura (1999) Blood 93, 2502]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGC-TGC
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCGC-TGC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Biasiotto (2003) Clin Chem 49, 1981
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=14633868&amp;dopt=Abstract Biasiotto (2003) Clin Chem 49, 1981]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGA-TGA
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cCGA-TGA
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |71
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |71
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Beutler (2002) Clin Genet 61, 40
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=11903354&amp;dopt=Abstract Beutler (2002) Clin Genet 61, 40]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GGG-CGG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGGG-CGG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Barton (1999) Blood Cells Mol Dis 25, 147
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10575540&amp;dopt=Abstract Barton (1999) Blood Cells Mol Dis 25, 147]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |ATT-ACT
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |ATT-ACT
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Barton (1999) Blood Cells Mol Dis 25, 147
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10575540&amp;dopt=Abstract Barton (1999) Blood Cells Mol Dis 25, 147]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAA-CAC
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAAg-CAC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1999) Hum Mol Genet 8, 1517
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10401000&amp;dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-CAG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-CAG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Oberkanins (2000) Genet Test 4, 121
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10953950&amp;dopt=Abstract Oberkanins (2000) Genet Test 4, 121]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-TAG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-TAG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Piperno (2000) Gastroenterology 119, 441
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10930379&amp;dopt=Abstract Piperno (2000) Gastroenterology 119, 441]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGG-TAG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGG-TAG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Term
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Term
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Piperno (2000) Gastroenterology 119, 441
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10930379&amp;dopt=Abstract Piperno (2000) Gastroenterology 119, 441]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GCC-GTC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GCC-GTC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ?
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ?
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Imanishi (2001) Intern Med 40, 479
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=11446670&amp;dopt=Abstract Imanishi (2001) Intern Med 40, 479]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CTG-CCG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CTG-CCG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Swinkels (2008) Blood Cells Mol Dis 40, 334
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=18042412&amp;dopt=Abstract Swinkels (2008) Blood Cells Mol Dis 40, 334]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGG-CAG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGG-CAG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Biasiotto (2003) Clin Chem 49, 1981
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=14633868&amp;dopt=Abstract Biasiotto (2003) Clin Chem 49, 1981]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTA-TTA
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tGTA-TTA
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |272
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |272
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Jones (2002) Tissue Antigens 60, 481
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=12542741&amp;dopt=Abstract Jones (2002) Tissue Antigens 60, 481]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-AAG
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGAG-AAG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Diabetes ?
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Diabetes ?
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Bradbury (1999) Hum Mutat 15, 120
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10612845&amp;dopt=Abstract Bradbury (1999) Hum Mutat 15, 120]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TAC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TAC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Feder (1996) Nat Genet 13, 399
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=8696333&amp;dopt=Abstract Feder (1996) Nat Genet 13, 399]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TCC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TCC
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Rosmorduc (2000) Gastroenterology 119, 1075
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=11040194&amp;dopt=Abstract Rosmorduc (2000) Gastroenterology 119, 1075]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAG-CCG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAG-CCG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Le Gac (2003) Blood Cells Mol Dis 30, 231
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=12737937&amp;dopt=Abstract Le Gac (2003) Blood Cells Mol Dis 30, 231]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-GCG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-GCG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Bento (2004) Hum Genet 114 405
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://springerlink.metapress.com/openurl.asp?genre=journal&amp;issn=0340-6717 Bento (2004) Hum Genet 114 405]
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense/nonsense
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-ATG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-ATG
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1999) Hum Mol Genet 8, 1517
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&amp;db=PubMed&amp;list_uids=10401000&amp;dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517]
 
|-
  
|-
−
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''TODO''': description.
 +
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''Table 1''': List of all missense/nonsense SNPs for HFE from the non-professional version of HGMD.
 
|}
  
|}
 
</figtable>
  
</figtable>

Latest revision as of 12:24, 10 June 2012

<figtable id="hgmd_snps">

ID Type Codon change Amino acid change Position Phenotype Reference
CM032270 Non-synonymous AGGc-AGC Arg-Ser 6 Haemochromatosis Wigg (2003) Gut 52, 433
CM994469 Non-synonymous cGTG-ATG Val-Met 53 Haemochromatosis de Villiers (1999) Hum Mol Genet 8, 1517
CM994470 Non-synonymous cGTG-ATG Val-Met 59 Haemochromatosis de Villiers (1999) Hum Mol Genet 8, 1517
HM971246 Synonymous CATg-CAC His-His 63 Haemochromatosis ? de Villiers (1998) Hum Genet 102 127
CM960827 Non-synonymous tCAT-GAT His-Asp 63 Haemochromatosis, association with Feder (1996) Nat Genet 13, 399
CM990718 Non-synonymous gAGT-TGT Ser-Cys 65 Haemochromatosis, association with Mura (1999) Blood 93, 2502
CM033969 Non-synonymous tCGC-TGC Arg-Cys 66 Altered iron status Biasiotto (2003) Clin Chem 49, 1981
CM020721 Nonsense cCGA-TGA Arg-Term 71 Haemochromatosis Beutler (2002) Clin Genet 61, 40
CM990719 Non-synonymous aGGG-CGG Gly-Arg 93 Haemochromatosis Barton (1999) Blood Cells Mol Dis 25, 147
CM990720 Non-synonymous ATT-ACT Ile-Thr 105 Haemochromatosis Barton (1999) Blood Cells Mol Dis 25, 147
CM990721 Non-synonymous CAAg-CAC Gln-His 127 Haemochromatosis de Villiers (1999) Hum Mol Genet 8, 1517
CM004810 Non-synonymous gGAG-CAG Glu-Gln 168 Haemochromatosis Oberkanins (2000) Genet Test 4, 121
CM004106 Nonsense gGAG-TAG Glu-Term 168 Haemochromatosis Piperno (2000) Gastroenterology 119, 441
CM004107 Nonsense TGG-TAG Trp-Term 169 Haemochromatosis Piperno (2000) Gastroenterology 119, 441
CM015326 Non-synonymous GCC-GTC Ala-Val 176 Haemochromatosis ? Imanishi (2001) Intern Med 40, 479
CM081301 Non-synonymous CTG-CCG Leu-Pro 183 Haemochromatosis Swinkels (2008) Blood Cells Mol Dis 40, 334
CM034097 Non-synonymous CGG-CAG Arg-Gln 224 Altered iron status Biasiotto (2003) Clin Chem 49, 1981
CM024530 Non-synonymous tGTA-TTA Val-Leu 272 Haemochromatosis Jones (2002) Tissue Antigens 60, 481
CM994771 Non-synonymous aGAG-AAG Glu-Lys 277 Diabetes ? Bradbury (1999) Hum Mutat 15, 120
CM960828 Non-synonymous TGC-TAC Cys-Tyr 282 Haemochromatosis, association with Feder (1996) Nat Genet 13, 399
CM004391 Non-synonymous TGC-TCC Cys-Ser 282 Haemochromatosis Rosmorduc (2000) Gastroenterology 119, 1075
CM032271 Non-synonymous CAG-CCG Gln-Pro 283 Haemochromatosis Le Gac (2003) Blood Cells Mol Dis 30, 231
HM030028 Non-synonymous GTG-GCG Val-Ala 295 Haemochromatosis Bento (2004) Hum Genet 114 405
CM990722 Non-synonymous AGG-ATG Arg-Met 330 Haemochromatosis de Villiers (1999) Hum Mol Genet 8, 1517
Table 1: List of all missense/nonsense SNPs for HFE from the non-professional version of HGMD.

</figtable>

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