Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Ile200Thr (p.I200T)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
- Source Database
- ClinVar
- Description
- NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) AND TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
- ClinVar Allele ID
- 20630
- ClinVar RefSeq Alternation Syntax
- NM_145862.2:c.470T>C
- ClinVar RefSeq Alternation Syntax
- NM_001349956.2:c.444+144T>C
- ClinVar RefSeq Alternation Syntax
- NM_001257387.2:c.-308T>C
- ClinVar RefSeq Alternation Syntax
- NM_007194.4:c.470T>C
- ClinVar RefSeq Alternation Syntax
- NM_001005735.2:c.599T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003333685
- ClinVar Disease
- TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
- Observed Origin Sample
- germline
- Pubmed
- 36222830
- Pubmed
- 37490054
- Pubmed
- 16816021
- Pubmed
- 15239132
- Pubmed
- 10617473
- Pubmed
- 12533788
- Pubmed
- 15492928
- Pubmed
- 17085682
Drugs