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C1orf194

Synonyms
-
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
46
Likely pathogenic
10
VUS
4,167
Likely benign
1,359
Benign
0

Patient phenotypes

Proportions of phenotypes among 36 patients carring pathogenic or likely pathogenic variants on C1orf194 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.8%
Abnormality of the musculoskeletal system
44.4%
Abnormality of the eye
33.3%
Abnormality of head or neck
19.4%
Abnormality of limbs
16.7%
Abnormality of the immune system
16.7%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Abnormality of the digestive system
8.3%
Growth abnormality
8.3%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
5.6%
Constitutional symptom
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
2.8%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of prenatal development or birth
2.8%
Abnormality of the genitourinary system
2.8%
Abnormality of the respiratory system
2.8%
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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