Annotation Detail
Information
- Associated Genes
- POLE
- Associated Variants
-
POLE p.Arg1324His (p.R1324H)
(
ENST00000535270.5,
ENST00000320574.10 )
POLE p.Arg1324His (p.R1324H) ( ENST00000320574.10, ENST00000535270.5 ) - Associated Disease
- Colorectal cancer, susceptibility to, 12
- Source Database
- ClinVar
- Description
- NM_006231.4(POLE):c.3971G>A (p.Arg1324His) AND Colorectal cancer, susceptibility to, 12
- ClinVar Allele ID
- 241375
- ClinVar RefSeq Alternation Syntax
- NM_006231.4:c.3971G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-11-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000230896
- ClinVar Disease
- Colorectal cancer, susceptibility to, 12
- Observed Origin Sample
- germline
Drugs