Annotation Detail

Information
Associated Genes
GALT
Associated Variants
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
Associated Disease
galactosemia
Source Database
ClinVar
Description
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) AND Galactosemia
ClinVar Allele ID
18660
ClinVar RefSeq Alternation Syntax
NM_000155.4:c.855G>T
ClinVar RefSeq Alternation Syntax
NM_001258332.2:c.528G>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2017-03-17
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001831510
ClinVar Disease
Galactosemia
Observed Origin Sample
germline
Drugs