rs1554933751
This variant is located in the SMPD1 gene.
▶ClinVar annotation
Pathogenic★★★☆
3 submitters5 publicationsNiemann-Pick disease, type A; Niemann-Pick disease, type B;Niemann-Pick disease, type A
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…