Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Asn352Ser (p.N352S)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Asn352Ser (p.N352S) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Metachromatic Leukodystrophy, Infant
- Source Database
- DisGeNET
- Description
- A late infantile metachromatic leukodystrophy patient was found to be heterozygous for the arylsulfatase A (ARSA) pseudodeficiency (pd) polyadenylation site variant ((*)96A>G) in the absence of the commonly associated N-glycosylation site variant (N350S).
- Pubmed
- 14571263
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.123800186209124
- Year of publication
- 2004
Drugs