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EFCC1

Synonyms
C3orf73, CCDC48
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
45
Likely pathogenic
0
VUS
2,264
Likely benign
12
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carring pathogenic or likely pathogenic variants on EFCC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the cardiovascular system
35.9%
Abnormality of the musculoskeletal system
25.6%
Abnormality of head or neck
23.1%
Abnormality of the genitourinary system
17.9%
Growth abnormality
15.4%
Abnormality of the immune system
12.8%
Abnormality of the digestive system
10.3%
Abnormality of the eye
10.3%
Abnormality of prenatal development or birth
7.7%
Abnormality of the ear
7.7%
Abnormality of the endocrine system
5.1%
Abnormality of the integument
5.1%
Abnormality of the respiratory system
5.1%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of limbs
2.6%
Constitutional symptom
2.6%
Neoplasm
2.6%
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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