| Geno
|
Mag
|
Summary
|
| (C;C)
|
6
|
Gaucher's disease, type 1
|
| (C;T)
|
3
|
carrier of Gaucher disease allele; increased Parkinson's risk?
|
| (T;T)
|
0
|
common in clinvar
|
rs76763715, also known as N370S or Asn370Ser, is a SNP in the GBA gene associated with Gaucher disease.
As reported by 23andMe, who use the term i4000415 for this SNP, the N370S mutation is associated only with type 1 Gaucher disease, which usually lacks neurological symptoms. People with either one or two copies of this mutation may have such mild symptoms that their physician never even detects them.
Gaucher's disease Type I (N370S homozygote), the most common, also called the "non-neuropathic" type, occurs mainly in Ashkenazi Jews, at 100 times the occurrence in the general populace. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. There are no neurological symptoms.
Wikipedia
| ClinVar
|
| Risk
|
Rs76763715(C;C) rs76763715(G;G) |
| Alt
|
Rs76763715(C;C) rs76763715(G;G) |
| Reference
|
Rs76763715(T;T) |
| Significance |
Other |
| Disease |
Gaucher's disease Parkinson disease Dementia not provided Susceptibility to Parkinson's Disease Gaucher disease Akinesia Rigidity |
| Variation | info |
|---|
| Gene |
GBA |
| CLNDBN |
Gaucher's disease, type 1 Parkinson disease, late-onset Dementia, Lewy body, susceptibility to not provided Susceptibility to Parkinson's Disease Gaucher disease Akinesia Rigidity |
| Reversed |
0 |
| HGVS |
NC_000001.10:g.155205634T>C; NC_000001.10:g.155205634T>G |
| CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000004515.11, RCV000004516.5, RCV000004517.5, RCV000079336.4, RCV000305321.1, RCV000396221.1, RCV000414782.1, RCV000020146.1, |
[PMID 2117855] Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
[PMID 2309702
] Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
[PMID 7789963] Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
[PMID 8432537] Identification of six new Gaucher disease mutations.
[PMID 9497856] Gaucher's disease: molecular, genetic and enzymological aspects.
[PMID 9554746] Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
] Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
