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NOL3

Synonyms
ARC, FCM, MYOCL1, MYP, NOP, NOP30
External resources
Summary
This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene.

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
10
Likely pathogenic
0
VUS
1,064
Likely benign
1,102
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on NOL3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
30%
Growth abnormality
30%
Abnormality of blood and blood-forming tissues
20%
Abnormality of head or neck
20%
Abnormality of the ear
20%
Abnormality of the endocrine system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of limbs
10%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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