Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Val3471Gly (p.V3471G)
(
ENST00000371117.8 )
PKHD1 p.Val3471Gly (p.V3471G) ( ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 19154
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.10412T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004331
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
- Pubmed
- 12506140
Drugs