Annotation Detail
Information
- Associated Genes
- PKD2 LOC129992813
- Associated Variants
-
PKD2 p.Pro120ArgfsTer12 (p.P120Rfs*12)
(
ENST00000237596.7 )
PKD2 p.Pro120ArgfsTer12 (p.P120Rfs*12) ( ENST00000237596.7 ) - Associated Disease
- polycystic kidney disease Hypertensive disorder
- Source Database
- ClinVar
- Description
- NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) AND multiple conditions
- ClinVar Allele ID
- 360862
- ClinVar RefSeq Alternation Syntax
- NM_000297.4:c.357_364delinsTAGGACG
- ClinVar RefSeq Alternation Syntax
- NR_156488.2:n.456_463delinsTAGGACG
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-11-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000414930
- ClinVar Disease
- Hypertensive disorder
- ClinVar Disease
- Polycystic kidney disease
- Observed Origin Sample
- unknown
Drugs