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ZC3H14

Synonyms
MRT56, MSUT-2, NY-REN-37, SUT2, UKp68
External resources
Summary
The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation.

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
14
Likely pathogenic
1
VUS
2,015
Likely benign
1,516
Benign
101

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on ZC3H14 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.3%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
33.3%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the ear
13.3%
Abnormality of the eye
13.3%
Growth abnormality
13.3%
Abnormality of the breast
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the integument
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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