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CDC25C

Synonyms
CDC25, PPP1R60
External resources
Summary
This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
22
Likely pathogenic
0
VUS
2,536
Likely benign
492
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on CDC25C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
63.6%
Abnormality of the musculoskeletal system
40.9%
Abnormality of head or neck
31.8%
Abnormality of the eye
22.7%
Growth abnormality
22.7%
Abnormality of limbs
13.6%
Abnormality of the cardiovascular system
13.6%
Abnormality of the ear
13.6%
Abnormality of the digestive system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of prenatal development or birth
4.5%
Abnormality of the integument
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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