rs76763715
rs76763715 is the classic GBA missense variant historically named N370S (c.1226A>G; p.Asn370Ser in legacy numbering, p.Asn409Ser in current full-length transcript numbering), the most common Gaucher-disease-causing mutation and especially frequent in the Ashkenazi Jewish population. The substitution reduces activity of glucocerebrosidase (GCase), the lysosomal enzyme that breaks down glucosylceramide; biallelic carriers develop Gaucher disease, while heterozygous carriers have impaired lysosomal lipid handling linked to altered alpha-synuclein processing. Heterozygous carriage of this variant is one of the strongest known genetic risk factors for late-onset Parkinson's disease, used here alongside LRRK2 G2019S rs34637584.
Traits rs76763715 reads
Gene
Reference databases
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