Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Met627Lys (p.M627K)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Met627Lys (p.M627K) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- polycystic kidney disease 4
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) AND Polycystic kidney disease 4
- ClinVar Allele ID
- 186715
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.1880T>A
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.1880T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003398869
- ClinVar Disease
- Polycystic kidney disease 4
- Observed Origin Sample
- germline
Drugs