Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) AND not provided
ClinVar Allele ID
227763
ClinVar RefSeq Alternation Syntax
NM_001348945.2:c.3645T>C
ClinVar RefSeq Alternation Syntax
NM_001348944.2:c.3435T>C
ClinVar RefSeq Alternation Syntax
NM_000927.5:c.3435T>C
ClinVar RefSeq Alternation Syntax
NM_001348946.2:c.3435T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-03-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000835732
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs