Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SMPD1

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

Mutations

Disease/PhenotypeNiemann-Pick disease, type B
DNA Change
A.A. Changep.Arg608del
Exon/Intronexon 6
Mutation Typedeletion
ReferenceVanier 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.


  Variant not named according to HGVS recommendations