Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ser3187LeufsTer33 (p.S3187Lfs*33)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ser3187LeufsTer33 (p.S3187Lfs*33) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- polycystic kidney disease 4
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) AND Polycystic kidney disease 4
- ClinVar Allele ID
- 205151
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.9559del
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.9559del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-07-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003462297
- ClinVar Disease
- Polycystic kidney disease 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs