Annotation Detail
Information
- Associated Genes
- ADH1C
- Associated Variants
-
ADH1C p.Arg48His (p.R48H)
(
ENST00000515683.6 )
ADH1C p.Arg48His (p.R48H) ( ENST00000515683.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000669.5(ADH1C):c.143G>A (p.Arg48His) AND not provided
- ClinVar Allele ID
- 721133
- ClinVar RefSeq Alternation Syntax
- NR_133005.2:n.214G>A
- ClinVar RefSeq Alternation Syntax
- NM_000669.5:c.143G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000881194
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs