Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Arg652Gly (p.R652G)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Arg652Gly (p.R652G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- Cholestasis, intrahepatic, of pregnancy, 3
- Source Database
- ClinVar
- Description
- NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) AND Cholestasis, intrahepatic, of pregnancy, 3
- ClinVar Allele ID
- 252953
- ClinVar RefSeq Alternation Syntax
- NM_000443.4:c.1954A>G
- ClinVar RefSeq Alternation Syntax
- NM_018850.3:c.1954A>G
- ClinVar RefSeq Alternation Syntax
- NM_018849.3:c.1954A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000343693
- ClinVar Disease
- Cholestasis, intrahepatic, of pregnancy, 3
- Observed Origin Sample
- germline
Drugs