Home > Gene Browser > EP400
EP400
- Synonyms
- CAGH32, P400, TNRC12
- External resources
- NCBI57634
- OMIM606265
- EnsemblENSG00000183495
- HGNCHGNC:11958
- Summary
- -
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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