Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Gly124Cys (p.G124C)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Gly124Ser (p.G124S) ( ENST00000395621.7, ENST00000453344.6, ENST00000356098.9, ENST00000395619.3, ENST00000216124.10 )
ARSA p.Gly124Cys (p.G124C) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 )
ARSA p.Gly124Ser (p.G124S) ( ENST00000453344.6, ENST00000356098.9, ENST00000216124.10, ENST00000395619.3, ENST00000395621.7 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- We have identified a new mutation in the ASA gene of a patient with adult-type MLD.
- Pubmed
- 7902317
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 1993
Drugs