Annotation Detail

Information
Associated Genes
ABCC2
Associated Variants
ABCC2 p.Ile1324= (p.I1324=) ( ENST00000647814.1 )
ABCC2 p.Ile1324= (p.I1324=) ( ENST00000647814.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) AND not specified
ClinVar Allele ID
193262
ClinVar RefSeq Alternation Syntax
NM_000392.5:c.3972C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2014-12-12
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000176843
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs