Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Leu218= (p.L218=)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Leu218= (p.L218=) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- GALT POLYMORPHISM (LOS ANGELES, D1)
- Source Database
- ClinVar
- Description
- NM_000155.3(GALT):c.[652C>T;c.940A>G] AND GALT POLYMORPHISM (LOS ANGELES, D1)
- ClinVar Allele ID
- 18652
- ClinVar Allele ID
- 18659
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.940A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.325C>T
- ClinVar RefSeq Alternation Syntax
- NM_000155.4:c.652C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258332.2:c.613A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2009-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003804
- ClinVar Disease
- GALT POLYMORPHISM (LOS ANGELES, D1)
- Observed Origin Sample
- germline
- Pubmed
- 9012409
- Pubmed
- 19224951
- Pubmed
- 4759900
Drugs