C223S (p.Cys223Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C223S (p.Cys223Ser) 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 Niemann-Pick disease, type B; Sphingomyelin/cholesterol lipidosis. The record also includes published literature and structural context.
C223S (p.Cys223Ser) variant details
- p.Cys223Ser
- rs2134010914
- ClinGen CA379370733
- ClinVar RCV001527417
- ClinVar RCV004770167
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Sphingomyelin/cholesterol lipidosis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Sphingomyelin/cholesterol lipidosi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Acid Sphingomyelinase Deficiency. (PMID 20301544)