Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 c.-129T>C ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 c.-129T>C ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Source Database
ClinVar
Description
NM_001348946.2(ABCB1):c.-129T>C AND Tramadol response
ClinVar Allele ID
817685
ClinVar RefSeq Alternation Syntax
NM_001348945.2:c.134-52T>C
ClinVar RefSeq Alternation Syntax
NM_000927.5:c.-129T>C
ClinVar RefSeq Alternation Syntax
NM_001348946.2:c.-129T>C
ClinVar RefSeq Alternation Syntax
NM_001348944.2:c.-77-52T>C
Clinical Significance Description
drug response
Clinical Significance Last Update
2018-04-28
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001029237
Observed Origin Sample
somatic
Drugs