Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Arg496Ter (p.R496*)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Arg496Ter (p.R496*) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 19153
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.1486C>T
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.1486C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004330
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12506140
Drugs