SMPD1

Gene name: sphingomyelin phosphodiesterase 1, acid lysosomal
OMIM ID: 607608
Chromosome location: 11p15.4

Mutations

Disease/Phenotype	Niemann-Pick disease, type B
DNA Change
A.A. Change	p.Arg608del
Exon/Intron	exon 6
Mutation Type	deletion
Reference	Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K.Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum Genet. 1993 Oct;92(4):325-30.

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  Variant not named according to HGVS recommendations