Annotation Detail
Information
- Associated Genes
- ADH1C
- Associated Variants
-
ADH1C p.Arg272Gln (p.R272Q)
(
ENST00000515683.6 )
ADH1C p.Arg272Gln (p.R272Q) ( ENST00000515683.6 ) - Associated Disease
- alcohol dependence
- Source Database
- ClinVar
- Description
- NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln) AND Alcohol dependence
- ClinVar Allele ID
- 33218
- ClinVar RefSeq Alternation Syntax
- NM_000669.5:c.815G>A
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2008-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019810
- ClinVar Disease
- Alcohol dependence
- Observed Origin Sample
- germline
- Pubmed
- 17718394
- Pubmed
- 15863807
- Pubmed
- 3758060
- Pubmed
- 17923853
Drugs