Annotation Detail
Information
- Associated Genes
- ABCC2
- Associated Variants
-
ABCC2 p.Val1188Glu (p.V1188E)
(
ENST00000647814.1 )
ABCC2 p.Val1188Glu (p.V1188E) ( ENST00000647814.1 ) - Associated Disease
- ABCC2-related disorder
- Source Database
- ClinVar
- Description
- NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) AND ABCC2-related disorder
- ClinVar Allele ID
- 323631
- ClinVar RefSeq Alternation Syntax
- NM_000392.5:c.3563T>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-07-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003967851
- ClinVar Disease
- ABCC2-related disorder
- Observed Origin Sample
- germline
Drugs