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.Thr138Met (p.T138M) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Gln188Arg (p.Q188R) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu195Pro (p.L195P) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Tyr209Ser (p.Y209S) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Tyr209Cys (p.Y209C) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu218Val (p.L218V) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu218= (p.L218=) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Trp (p.S135W) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Thr138Met (p.T138M) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Gln188Arg (p.Q188R) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu195Pro (p.L195P) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Tyr209Ser (p.Y209S) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Tyr209Cys (p.Y209C) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu218Val (p.L218V) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu218= (p.L218=) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).
- Pubmed
- 17876724
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 2007
Drugs