Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Val632Ala (p.V632A)
(
ENST00000272286.4 )
ABCG8 p.Val632Ala (p.V632A) ( ENST00000272286.4 ) - Source Database
- ClinVar
- Description
- NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) AND Cardiovascular phenotype
- ClinVar Allele ID
- 289805
- ClinVar RefSeq Alternation Syntax
- NM_022437.3:c.1895T>C
- ClinVar RefSeq Alternation Syntax
- NM_001357321.2:c.1892T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-12-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002411234
- Observed Origin Sample
- germline
Drugs