Annotation Detail
Information
- Associated Genes
- ALDH2
- Associated Variants
-
ALDH2 p.Glu504Lys (p.E504K)
(
ENST00000261733.7,
ENST00000416293.7 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 ) - Source Database
- ClinVar
- Description
- NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) AND ethanol response - Toxicity
- ClinVar Allele ID
- 33429
- ClinVar RefSeq Alternation Syntax
- NM_000690.4:c.1510G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204889.2:c.1369G>A
- Clinical Significance Description
- drug response
- Clinical Significance Last Update
- 2021-03-24
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001787815
- Observed Origin Sample
- germline
Drugs