M384I (p.Met384Ile) variant of SMPD1 (Sphingomyelin phosphodiesterase)
M384I (p.Met384Ile) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A. The record also includes published literature and structural context.
M384I (p.Met384Ile) variant details
- p.Met384Ile
- rs120074121
- ClinGen CA252515
- ClinVar RCV000003120
- ClinVar RCV000596113
- Pathogenic/Likely pathogenic
- not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Sphingomyelin/cholesterol lipidosis; Niemann-Pick)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Structural context available
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)
- Cited in: Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B… (PMID 1618760)