Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Arg124Ter (p.R124*)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Arg124Ter (p.R124*) ( ENST00000340994.4, ENST00000371117.8 ) - Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) AND Abnormal intrahepatic bile duct morphology
- ClinVar Allele ID
- 177240
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.370C>T
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.370C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000626995
- Observed Origin Sample
- unknown
Drugs