Difference between revisions of "Hemochromatosis HGMD SNP TABLE"

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(Created page with "<figtable id="TODO_ID"> {| class="wikitable" style="width: 1000px; margin: 1em 1em 1em 0; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000" |-…")
 
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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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-AGC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-ATG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-ATG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-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
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| 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" |CAT-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAT-GAT
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAT-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
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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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGT-TGT
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGT-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGC-TGC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGC-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
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| 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" |CGA-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
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|-
  
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GGG-CGG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GGG-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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAA-CAC
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAA-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-CAG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-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
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| 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" |GAG-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
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| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTA-TTA
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTA-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
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| 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" |Missense
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-AAG
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GAG-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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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
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| 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" |Missense
 
| 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

Revision as of 15:27, 9 June 2012

<figtable id="TODO_ID">

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

</figtable>

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