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ZNF2

Synonyms
A1-5, ZNF661, Zfp661
External resources
Summary
The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
12
Likely pathogenic
0
VUS
559
Likely benign
20
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on ZNF2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
54.5%
Abnormality of the nervous system
36.4%
Abnormality of head or neck
18.2%
Abnormality of the musculoskeletal system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
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 breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
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%
Neoplasm
0%

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