Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Val571AspfsTer16 (p.V571Dfs*16) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- Progressive familial intrahepatic cholestasis type 3
- Source Database
- ClinVar
- Description
- NM_000443.4(ABCB4):c.1712del (p.Val571fs) AND Progressive familial intrahepatic cholestasis type 3
- ClinVar Allele ID
- 28727
- ClinVar RefSeq Alternation Syntax
- NM_018850.3:c.1712del
- ClinVar RefSeq Alternation Syntax
- NM_000443.4:c.1712del
- ClinVar RefSeq Alternation Syntax
- NM_018849.3:c.1712del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-01-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014685
- ClinVar Disease
- Progressive familial intrahepatic cholestasis type 3
- Observed Origin Sample
- germline
- Pubmed
- 9923886
Drugs