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
- inflammatory bowel disease 13
- Source Database
- ClinVar
- Description
- NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND Inflammatory bowel disease 13
- 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
- risk factor
- Clinical Significance Last Update
- 2003-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014698
- ClinVar Disease
- Inflammatory bowel disease 13
- Observed Origin Sample
- germline
- Pubmed
- 14610718
Drugs