Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Cys1472LeufsTer36 (p.C1472Lfs*36)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Cys1472LeufsTer36 (p.C1472Lfs*36) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) AND Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 102298
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.4415delinsTATTCCCC
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.4415delinsTATTCCCC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001244749
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
Drugs