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ZNF43

Synonyms
HTF6, KOX27, ZNF39L1
External resources
Summary
This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions.

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
41
Likely pathogenic
6
VUS
1,438
Likely benign
2
Benign
0

Patient phenotypes

Proportions of phenotypes among 44 patients carring pathogenic or likely pathogenic variants on ZNF43 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
27.3%
Abnormality of the nervous system
25%
Abnormality of the genitourinary system
20.5%
Abnormality of the musculoskeletal system
18.2%
Abnormality of blood and blood-forming tissues
15.9%
Abnormality of the cardiovascular system
15.9%
Abnormality of limbs
13.6%
Abnormality of head or neck
11.4%
Abnormality of the ear
11.4%
Abnormality of the integument
9.1%
Growth abnormality
6.8%
Abnormality of the digestive system
4.5%
Abnormality of prenatal development or birth
2.3%
Abnormality of the immune system
2.3%
Neoplasm
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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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