Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Gln3407Ter (p.Q3407*)
(
ENST00000371117.8 )
PKHD1 p.Gln3407Ter (p.Q3407*) ( ENST00000371117.8 ) - Associated Disease
- polycystic kidney disease 4
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) AND Polycystic kidney disease 4
- ClinVar Allele ID
- 195475
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.10219C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002267610
- ClinVar Disease
- Polycystic kidney disease 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
Drugs