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ZNF117

Synonyms
H-plk, HPF9
External resources
Summary
This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein.

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
49
Likely pathogenic
0
VUS
4,411
Likely benign
80
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on ZNF117 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
58.6%
Abnormality of the nervous system
51.7%
Abnormality of the musculoskeletal system
44.8%
Growth abnormality
27.6%
Abnormality of the cardiovascular system
24.1%
Abnormality of the eye
24.1%
Abnormality of the integument
24.1%
Abnormality of limbs
20.7%
Abnormality of the digestive system
13.8%
Abnormality of the ear
13.8%
Abnormality of the respiratory system
13.8%
Abnormality of blood and blood-forming tissues
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of prenatal development or birth
6.9%
Abnormality of the immune system
6.9%
Constitutional symptom
6.9%
Abnormality of the breast
3.4%
Abnormality of the endocrine system
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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