Annotation Detail
Information
- Associated Genes
- ABCB11
- Associated Variants
-
ABCB11 p.Val444Ala (p.V444A)
(
ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 ) - Associated Disease
- Progressive familial intrahepatic cholestasis type 2
- Source Database
- ClinVar
- Description
- NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) AND Progressive familial intrahepatic cholestasis type 2
- ClinVar Allele ID
- 191377
- ClinVar RefSeq Alternation Syntax
- NM_003742.4:c.1331T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000273829
- ClinVar Disease
- Progressive familial intrahepatic cholestasis type 2
- Observed Origin Sample
- germline
Drugs