Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Gln2167Lys (p.Q2167K)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Gln2167Lys (p.Q2167K) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 271038
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.6499C>A
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.6499C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000819334
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
Drugs