Annotation Detail
Information
- Associated Genes
- ADH1C
- Associated Variants
-
ADH1C p.Ile350Val (p.I350V)
(
ENST00000515683.6 )
ADH1C p.Ile350Val (p.I350V) ( ENST00000515683.6 ) - Associated Disease
- alcohol dependence
- Source Database
- ClinVar
- Description
- NM_000669.5(ADH1C):c.1048A>G (p.Ile350Val) AND Alcohol dependence
- ClinVar Allele ID
- 33219
- ClinVar RefSeq Alternation Syntax
- NM_000669.5:c.1048A>G
- ClinVar RefSeq Alternation Syntax
- NR_133005.2:n.1075A>G
- 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/RCV000019811
- ClinVar Disease
- Alcohol dependence
- Observed Origin Sample
- germline
- Pubmed
- 17718394
- Pubmed
- 10090900
- Pubmed
- 3397059
- Pubmed
- 15863807
- Pubmed
- 3758060
- Pubmed
- 17923853
Drugs