W211R (p.Trp211Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W211R (p.Trp211Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick. The record also includes published literature and structural context.
W211R (p.Trp211Arg) variant details
- p.Trp211Arg
- rs2493805405
- ClinGen CA379370436
- ClinVar RCV003062323
- ClinVar RCV003138464
- Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick
- Missense
- ClinVar: Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Structural context available
- Cited in: Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. (PMID 20386867)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)