Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND not provided
ClinVar Allele ID
176988
ClinVar RefSeq Alternation Syntax
NM_001348944.2:c.2677T>G
ClinVar RefSeq Alternation Syntax
NM_001348945.2:c.2887T>G
ClinVar RefSeq Alternation Syntax
NM_000927.5:c.2677T>G
ClinVar RefSeq Alternation Syntax
NM_001348946.2:c.2677T>G
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/RCV000835733
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs