rs868423827
This is a stop gained variant in the SMPD1 gene.
▶ClinVar annotation
Pathogenic★★★☆
3 submitters1 publicationNiemann-Pick disease, type A; Niemann-Pick disease, type B
View on ClinVar →About SMPD1
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
View all SMPD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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