rs80356769
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Gaucher disease mutation |
| (T;T) | 5 | Gaucher disease |
| Reference | GRCh37 37.1/132 |
| Chromosome | 1 |
| Position | 155235772 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356769 |
| dbSNP (classic) | rs80356769 |
| ClinGen | rs80356769 |
| ebi | rs80356769 |
| HLI | rs80356769 |
| Exac | rs80356769 |
| Gnomad | rs80356769 |
| Varsome | rs80356769 |
| LitVar | rs80356769 |
| Map | rs80356769 |
| PheGenI | rs80356769 |
| Biobank | rs80356769 |
| 1000 genomes | rs80356769 |
| hgdp | rs80356769 |
| ensembl | rs80356769 |
| geneview | rs80356769 |
| scholar | rs80356769 |
| rs80356769 | |
| pharmgkb | rs80356769 |
| gwascentral | rs80356769 |
| openSNP | rs80356769 |
| 23andMe | rs80356769 |
| SNPshot | rs80356769 |
| SNPdbe | rs80356769 |
| MSV3d | rs80356769 |
| GWAS Ctlg | rs80356769 |
| Max Magnitude | 5 |
rs80356769, also known as V394L or Val394Leu, is a SNP in the GBA gene associated with Gaucher disease.
As reported by 23andMe, who use the term i4000419 for this SNP, the V394L mutation is found in about 1 out of 1,000 Ashkenazi Jews.
| ClinVar | |
|---|---|
| Risk | Rs80356769(T;T) |
| Alt | Rs80356769(T;T) |
| Reference | Rs80356769(G;G) |
| Significance | Other |
| Disease | Subacute neuronopathic Gaucher's disease Gaucher's disease Gaucher disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Subacute neuronopathic Gaucher's disease Gaucher's disease, type 1 Gaucher disease |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155205563C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004520.3, RCV000004521.3, RCV000020148.1, |
[PMID 2349952
] Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
[PMID 2508065] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
