Annotation Detail
Information
- Associated Genes
- ABCC2
- Associated Variants
-
ABCC2 p.Val417Ile (p.V417I)
(
ENST00000647814.1 )
ABCC2 p.Val417Ile (p.V417I) ( ENST00000647814.1 ) - Associated Disease
- ABCC2-related disorder
- Source Database
- ClinVar
- Description
- NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) AND ABCC2-related disorder
- ClinVar Allele ID
- 253969
- ClinVar RefSeq Alternation Syntax
- NM_000392.5:c.1249G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-01-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003891848
- ClinVar Disease
- ABCC2-related disorder
- Observed Origin Sample
- germline
Drugs