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DENND4C

Synonyms
C9orf55, C9orf55B, RAB10GEF, bA513M16.3
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
19
Likely pathogenic
20
VUS
13,010
Likely benign
1,247
Benign
0

Patient phenotypes

Proportions of phenotypes among 37 patients carring pathogenic or likely pathogenic variants on DENND4C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45.9%
Abnormality of the musculoskeletal system
32.4%
Abnormality of the nervous system
24.3%
Abnormality of the cardiovascular system
16.2%
Abnormality of head or neck
13.5%
Constitutional symptom
10.8%
Abnormality of limbs
8.1%
Abnormality of blood and blood-forming tissues
5.4%
Abnormality of the digestive system
5.4%
Abnormality of the ear
5.4%
Abnormality of the immune system
5.4%
Abnormality of the integument
5.4%
Abnormality of the respiratory system
5.4%
Growth abnormality
5.4%
Abnormal cellular phenotype
2.7%
Abnormality of the breast
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the genitourinary system
2.7%
Neoplasm
2.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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