G247D (p.Gly247Asp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G247D (p.Gly247Asp) 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 Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A. The record also includes published literature and structural context.
G247D (p.Gly247Asp) variant details
- p.Gly247Asp
- rs1590739350
- ClinGen CA379370910
- ClinVar RCV001004577
- ClinVar RCV005912368
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Structural context available
- Cited in: Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. (PMID 23430884)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)