Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Gln1256ArgfsTer47 (p.Q1256Rfs*47)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Gln1256ArgfsTer47 (p.Q1256Rfs*47) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 186711
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.3766del
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.3766del
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2020-09-29
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169060
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs