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C20orf173

Synonyms
dJ477O4.4
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
6
Likely pathogenic
105
VUS
2,086
Likely benign
99
Benign
0

Patient phenotypes

Proportions of phenotypes among 111 patients carring pathogenic or likely pathogenic variants on C20orf173 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.4%
Abnormality of the cardiovascular system
20.7%
Abnormality of the ear
18.9%
Abnormality of the musculoskeletal system
18%
Abnormality of head or neck
13.5%
Abnormality of the eye
9.9%
Abnormality of the integument
9.9%
Growth abnormality
7.2%
Abnormality of the genitourinary system
5.4%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of limbs
3.6%
Abnormality of the digestive system
3.6%
Abnormality of the immune system
3.6%
Neoplasm
2.7%
Abnormality of prenatal development or birth
0.9%
Abnormality of the endocrine system
0.9%
Abnormality of the respiratory system
0.9%
Constitutional symptom
0.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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