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EP400

Synonyms
CAGH32, P400, TNRC12
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2,456
Likely pathogenic
6,763
VUS
27,112
Likely benign
43,135
Benign
0

Patient phenotypes

Proportions of phenotypes among 5673 patients carrying pathogenic or likely pathogenic variants on EP400 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the musculoskeletal system
27.5%
Abnormality of the cardiovascular system
23.3%
Abnormality of the eye
22%
Abnormality of head or neck
20.2%
Abnormality of the ear
13%
Growth abnormality
12.7%
Abnormality of the integument
12.6%
Abnormality of limbs
11.9%
Abnormality of the genitourinary system
11.3%
Abnormality of the digestive system
8.4%
Abnormality of the immune system
7.5%
Abnormality of the endocrine system
5.1%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the respiratory system
4.1%
Neoplasm
3.8%
Abnormality of prenatal development or birth
2.7%
Constitutional symptom
1.3%
Abnormal cellular phenotype
1%
Abnormality of the breast
0.7%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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