Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ile2331Lys (p.I2331K)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ile2331Lys (p.I2331K) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) AND Polycystic kidney disease
- ClinVar Allele ID
- 186710
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.6992T>A
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.6992T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001291886
- ClinVar Disease
- Polycystic kidney disease
- Observed Origin Sample
- unknown
Drugs