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ANAPC1

Synonyms
APC1, MCPR, TSG24
External resources
Summary
This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation.

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
14
Likely pathogenic
9,358
VUS
53,736
Likely benign
32,459
Benign
150

Patient phenotypes

Proportions of phenotypes among 9367 patients carrying pathogenic or likely pathogenic variants on ANAPC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
26.5%
Abnormality of the cardiovascular system
23.7%
Abnormality of the eye
20.3%
Abnormality of head or neck
20.2%
Abnormality of the ear
12.5%
Growth abnormality
12%
Abnormality of the integument
11.3%
Abnormality of the genitourinary system
10.9%
Abnormality of limbs
10.2%
Abnormality of the digestive system
7.8%
Abnormality of the immune system
6.7%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
3.7%
Neoplasm
2.9%
Abnormality of prenatal development or birth
2.4%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.7%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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