Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Ser135Trp (p.S135W)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Trp (p.S135W) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients.
- Pubmed
- 8551426
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 1996
Drugs