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RIBC2

Synonyms
C22orf11, TRIB
External resources

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
28
Likely pathogenic
2
VUS
4,622
Likely benign
709
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on RIBC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.3%
Abnormality of the musculoskeletal system
43.3%
Abnormality of head or neck
23.3%
Abnormality of the eye
23.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of limbs
10%
Growth abnormality
10%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Abnormality of the endocrine system
3.3%
Neoplasm
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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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