Researching SNPs Gaucher Disease
From Bioinformatikpedia
HGMD
- HGMD public: 88745
- HGMD professional: 123656
- Source: publications scanned both manually and automatically
- Background information
- Since 2009 only few mutations are added to the public version
HGMD, the Human Gene Mutation Database, contains germline mutations that are linked to human diseases. There are several types of mutations:
- missense/nonsense: codon codes for a different amino acid/premature stop codon
- splicing: a mutation that causes splicing
- regulatory: mutation affecting the regulation of gene expression
- small/gross deletions: mutation that deletes residues
- small/gross insertions: mutation that inserts residues
- small indels: insertion or deletion (maybe not recognizable)
- duplications: duplicated sequence pieces
- complex rearrangements: part of the sequence is placed somewhere else
- repeat variations: repeated varied parts of the sequence are placed somewhere else
| Type | Count |
|---|---|
| Missense/nonsense | 250 |
| Splicing | 15 |
| Regulatory | 0 |
| Small deletions | 26 |
| Small insertions | 13 |
| Small indels | 2 |
| Gross deletions | 3 |
| Gross insertions/duplications | 1 |
| Complex rearrangements | 15 |
| Public total | 325 |
