Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Glu282Lys (p.E282K)
(
ENST00000402731.6,
ENST00000404276.6,
ENST00000382580.6,
ENST00000405598.5,
ENST00000348295.7,
ENST00000403642.5,
ENST00000464581.6,
ENST00000425190.7,
ENST00000650281.1,
ENST00000649563.1 )
CHEK2 p.Glu282Lys (p.E282K) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- CHEK2-related disorder
- Source Database
- ClinVar
- Description
- NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) AND CHEK2-related disorder
- ClinVar Allele ID
- 20639
- ClinVar RefSeq Alternation Syntax
- NM_007194.4:c.715G>A
- ClinVar RefSeq Alternation Syntax
- NM_145862.2:c.715G>A
- ClinVar RefSeq Alternation Syntax
- NM_001257387.2:c.52G>A
- ClinVar RefSeq Alternation Syntax
- NM_001349956.2:c.514G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005735.2:c.844G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532294
- ClinVar Disease
- CHEK2-related disorder
- Observed Origin Sample
- germline
Drugs