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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

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
8
Likely pathogenic
0
VUS
30,067
Likely benign
6,149
Benign
3

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on ANAPC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the immune system
12.5%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the respiratory system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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