Annotation Detail

Information
Associated Genes
ABCC2
Associated Variants
ABCC2 p.Cys1515Tyr (p.C1515Y) ( ENST00000647814.1 )
ABCC2 p.Cys1515Tyr (p.C1515Y) ( ENST00000647814.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) AND not provided
ClinVar Allele ID
312021
ClinVar RefSeq Alternation Syntax
NM_000392.5:c.4544G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-02-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001723883
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs