Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Asn314Asp (p.N314D)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability.
- Pubmed
- 9012409
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 1997
Drugs