Annotation Detail
Information
- Associated Genes
- CCND1
- Associated Variants
-
CCND1 p.Pro241= (p.P241=)
(
ENST00000536559.1,
ENST00000227507.3 )
CCND1 p.Pro241= (p.P241=) ( ENST00000227507.3, ENST00000536559.1 ) - Associated Disease
- Colorectal cancer, susceptibility to
- Source Database
- ClinVar
- Description
- NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND Colorectal cancer, susceptibility to
- ClinVar Allele ID
- 28794
- ClinVar RefSeq Alternation Syntax
- NM_053056.3:c.723G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2013-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014762
- ClinVar Disease
- Colorectal cancer, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 11459873
- Pubmed
- 24870244
- Pubmed
- 12097293
- Pubmed
- 23502783
- Pubmed
- 10667569
Drugs