present in Gene: SMPD1
present in Chromosome: 11
Position on Chromosome: 6394495
Alleles of this Variant: TT/-
rs1057516403 in
SMPD1 gene and
Niemann-Pick Disease, Type A
PMID 14681755 2003 Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
PMID 18052040 2007 Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.
PMID 26499107 2016 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.