rs560531338

This variant is located in the SMPD1 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Niemann-Pick disease, type A;Niemann-Pick disease, type B; Inborn genetic diseases

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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