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CNPY3

Synonyms
CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5
External resources
Summary
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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
24
Likely pathogenic
0
VUS
5,804
Likely benign
1,132
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on CNPY3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
41.7%
Abnormality of head or neck
37.5%
Abnormality of the eye
33.3%
Growth abnormality
25%
Abnormality of limbs
20.8%
Abnormality of the ear
20.8%
Abnormality of the integument
16.7%
Abnormality of the cardiovascular system
12.5%
Abnormality of the breast
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the immune system
4.2%
Abnormality of the respiratory system
4.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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