Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ser3018Phe (p.S3018F)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ser3018Phe (p.S3018F) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- ClinVar
- Description
- NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) AND Autosomal recessive polycystic kidney disease
- ClinVar Allele ID
- 19149
- ClinVar RefSeq Alternation Syntax
- NM_138694.4:c.9053C>T
- ClinVar RefSeq Alternation Syntax
- NM_170724.3:c.9053C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004326
- ClinVar Disease
- Autosomal recessive polycystic kidney disease
- Observed Origin Sample
- germline
- Pubmed
- 11919560
Drugs