Annotation Detail
Information
- Associated Genes
- PKD1
- Associated Variants
-
PKD1 p.Arg3277Cys (p.R3277C)
(
ENST00000423118.5,
ENST00000262304.9 )
PKD1 p.Arg3277Cys (p.R3277C) ( ENST00000262304.9, ENST00000423118.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) AND not provided
- ClinVar Allele ID
- 190113
- ClinVar RefSeq Alternation Syntax
- NM_001009944.3:c.9829C>T
- ClinVar RefSeq Alternation Syntax
- NM_000296.4:c.9829C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000497386
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs