| Geno
|
Mag
|
Summary
|
| (C;C)
|
8
|
possibly Gaucher's disease, but more likely a mis-oriented interpretation
|
| (C;G)
|
3
|
Carrier of a Gaucher disease mutation
|
| (G;G)
|
0
|
common/normal
|
rs1064651, also known as Asp448His or D448H, is a SNP in exon 9 of the GBA gene on chromosome 1. As the protein was originally numbered, though, this variation occurred at amino acid 409 (rather than 448), so the scientific literature still often refers to this mutation as Asp409His or D409H.
Mutations in both copies of a person's GBA gene may lead to Gaucher's disease, an autosomal recessive disorder. When one of the mutations is the D409H mutation, the clinical description may be Gaucher disease type 3C, involving valvular heart disease. However, the clinical presentation appears to be highly variable as well as dependent on which two mutations are present. For more information, see OMIM 606463.0006.
Be aware that since this mutation is due to a G>C (tranversion) when oriented in the direction the gene is transcribed, interpretation can be problematic due to orientation issues involving ambiguous flips.
| ClinVar
|
| Risk
|
Rs1064651(C;C) |
| Alt
|
Rs1064651(C;C) |
| Reference
|
Rs1064651(G;G) |
| Significance |
Pathogenic |
| Disease |
Gaucher disease type 3C Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease Gaucher disease not provided |
| Variation | info |
|---|
| Gene |
GBA |
| CLNDBN |
Gaucher disease type 3C Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal Gaucher disease not provided |
| Reversed |
1 |
| HGVS |
NC_000001.10:g.155205518C>G |
| CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000004522.6, RCV000004523.8, RCV000004524.6, RCV000004525.6, RCV000004526.6, RCV000004580.3, RCV000004581.3, RCV000055773.1, RCV000079338.4, |
