CHEK2

CHEK2

checkpoint kinase 2

HCNC Approved Symbol: CHEK2 (HGNC:16627)
Genomic Coordinates: 22:28,687,743 - 28,741,834 (22q12.1)
Synonyms: CDS1, CHK2, HuCds1, PP1425, bA444G7, RAD53
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the CHEK2 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

04
Patient count

Breast carcinoma: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Brain tumor: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Immunodeficiency: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)

Last updated: 2024-06-30