Annotation Detail
Information
- Associated Genes
- PKD1
- Associated Variants
-
PKD1 p.Cys508Arg (p.C508R)
(
ENST00000423118.5,
ENST00000262304.9 )
PKD1 p.Cys508Arg (p.C508R) ( ENST00000262304.9, ENST00000423118.5 ) - Associated Disease
- Polycystic kidney disease, adult type
- Source Database
- ClinVar
- Description
- NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) AND Polycystic kidney disease, adult type
- ClinVar Allele ID
- 793626
- ClinVar RefSeq Alternation Syntax
- NM_001009944.3:c.1522T>C
- ClinVar RefSeq Alternation Syntax
- NM_000296.4:c.1522T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002489472
- ClinVar Disease
- Polycystic kidney disease, adult type
- Observed Origin Sample
- unknown
Drugs