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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

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
5,170
Likely benign
2,855
Benign
197

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on ZC3H14 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
25%
Abnormality of the digestive system
16.7%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the eye
12.5%
Abnormality of the integument
12.5%
Growth abnormality
12.5%
Abnormality of limbs
8.3%
Abnormality of the ear
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the breast
4.2%
Constitutional symptom
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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