Annotation Detail

Information
Associated Genes
ABCB1
Associated Variants
ABCB1 p.Ser400Asn (p.S400N) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser400Asn (p.S400N) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) AND not specified
ClinVar Allele ID
191171
ClinVar RefSeq Alternation Syntax
NM_001348944.2:c.1199G>A
ClinVar RefSeq Alternation Syntax
NM_001348945.2:c.1409G>A
ClinVar RefSeq Alternation Syntax
NM_000927.5:c.1199G>A
ClinVar RefSeq Alternation Syntax
NM_001348946.2:c.1199G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-10-04
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000174262
ClinVar Disease
not specified
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs