Annotation Detail
Information
- Associated Genes
- PKD1
- Associated Variants
-
PKD1 p.Ala725Thr (p.A725T)
(
ENST00000262304.9,
ENST00000423118.5 )
PKD1 p.Ala725Thr (p.A725T) ( ENST00000262304.9, ENST00000423118.5 ) - Associated Disease
- bile duct cancer
- Source Database
- ClinVar
- Description
- NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) AND Bile duct cancer
- ClinVar Allele ID
- 1038404
- ClinVar RefSeq Alternation Syntax
- NM_000296.4:c.2173G>A
- ClinVar RefSeq Alternation Syntax
- NM_001009944.3:c.2173G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001354337
- ClinVar Disease
- Bile duct cancer
- Observed Origin Sample
- unknown
Drugs