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CCNG1

Synonyms
CCNG
External resources
Summary
The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene.

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
5
Likely pathogenic
55
VUS
1,573
Likely benign
270
Benign
0

Patient phenotypes

Proportions of phenotypes among 58 patients carring pathogenic or likely pathogenic variants on CCNG1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.3%
Abnormality of the musculoskeletal system
19%
Abnormality of head or neck
15.5%
Abnormality of the cardiovascular system
15.5%
Abnormality of the ear
13.8%
Growth abnormality
12.1%
Abnormality of the eye
10.3%
Abnormality of the immune system
8.6%
Abnormality of the integument
8.6%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of prenatal development or birth
5.2%
Abnormality of the digestive system
5.2%
Abnormality of limbs
3.4%
Abnormality of the endocrine system
3.4%
Neoplasm
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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