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ZNF462

Synonyms
WSKA, ZFPIP, Zfp462
External resources
Summary
The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
156
Likely pathogenic
0
VUS
10,592
Likely benign
3,508
Benign
0

Patient phenotypes

Proportions of phenotypes among 154 patients carrying pathogenic or likely pathogenic variants on ZNF462 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.1%
Abnormality of the musculoskeletal system
27.9%
Abnormality of the cardiovascular system
25.3%
Abnormality of head or neck
20.1%
Abnormality of the eye
18.2%
Abnormality of the integument
11.7%
Growth abnormality
11%
Abnormality of limbs
9.7%
Abnormality of the ear
9.1%
Abnormality of the digestive system
7.8%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
6.5%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the immune system
5.8%
Abnormality of the respiratory system
5.8%
Neoplasm
3.9%
Abnormality of prenatal development or birth
2.6%
Constitutional symptom
1.9%
Abnormal cellular phenotype
0.6%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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