D253E (p.Asp253Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D253E (p.Asp253Glu) 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; Niemann-Pick. The record also includes published literature and structural context.
D253E (p.Asp253Glu) variant details
- p.Asp253Glu
- rs752000778
- ClinGen CA379370955
- ClinVar RCV001293359
- ClinVar RCV004690065
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick
- 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: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)