Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Asn314Asp (p.N314D)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Arg333Gly (p.R333G) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Arg333Trp (p.R333W) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Arg333Gly (p.R333G) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Arg333Trp (p.R333W) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N314D and R333W mutations, previously found in Caucasians.
- Pubmed
- 7550229
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 1995
Drugs