Home > Gene Browser > CDC7

CDC7

Synonyms
CDC7L1, HsCDC7, Hsk1, huCDC7
External resources
Summary
This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected.

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
16
Likely pathogenic
0
VUS
1,782
Likely benign
214
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on CDC7 gene are displayed below. The following symptoms were found in patients with a variant in CDC7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.8%
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
31.3%
Abnormality of head or neck
25%
Growth abnormality
18.8%
Abnormality of limbs
12.5%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the ear
6.3%
Abnormality of the immune system
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.