Annotation Detail
Information
- Associated Genes
- PKD1
- Associated Variants
-
PKD1 p.Arg1672GlyfsTer98 (p.R1672Gfs*98)
(
ENST00000262304.9,
ENST00000423118.5 )
PKD1 p.Arg1672GlyfsTer98 (p.R1672Gfs*98) ( ENST00000262304.9, ENST00000423118.5 ) - Associated Disease
- Polycystic kidney disease, adult type
- Source Database
- ClinVar
- Description
- NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND Polycystic kidney disease, adult type
- ClinVar Allele ID
- 441862
- ClinVar RefSeq Alternation Syntax
- NM_000296.4:c.5014_5015del
- ClinVar RefSeq Alternation Syntax
- NM_001009944.3:c.5014_5015del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000989457
- ClinVar Disease
- Polycystic kidney disease, adult type
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- paternal
- Pubmed
- 9668165
Drugs