Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Cys2803Tyr (p.C2803Y)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Cys2803Tyr (p.C2803Y) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 102327
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.8408G>A
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.8408G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-05-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001854440
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
Drugs