Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Arg160Gly (p.R160G)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Arg160Gly (p.R160G) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- CHEK2-related disorder
- Source Database
- ClinVar
- Description
- NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) AND CHEK2-related disorder
- ClinVar Allele ID
- 133528
- ClinVar RefSeq Alternation Syntax
- NM_001349956.2:c.349A>G
- ClinVar RefSeq Alternation Syntax
- NM_145862.2:c.349A>G
- ClinVar RefSeq Alternation Syntax
- NM_001257387.2:c.-429A>G
- ClinVar RefSeq Alternation Syntax
- NM_001005735.2:c.478A>G
- ClinVar RefSeq Alternation Syntax
- NM_007194.4:c.349A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003114263
- ClinVar Disease
- CHEK2-related disorder
- Observed Origin Sample
- germline
Drugs