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VEZF1

Synonyms
DB1, ZNF161
External resources
Summary
Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.

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
8
Likely pathogenic
371
VUS
940
Likely benign
431
Benign
0

Patient phenotypes

Proportions of phenotypes among 190 patients carrying pathogenic or likely pathogenic variants on VEZF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of the musculoskeletal system
35.3%
Abnormality of head or neck
22.6%
Abnormality of the eye
19.5%
Abnormality of limbs
16.3%
Abnormality of the integument
14.7%
Abnormality of the ear
11.6%
Growth abnormality
10%
Abnormality of the genitourinary system
9.5%
Abnormality of the digestive system
7.9%
Abnormality of the cardiovascular system
6.8%
Abnormality of the respiratory system
6.8%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
4.2%
Neoplasm
2.1%
Abnormality of prenatal development or birth
1.6%
Constitutional symptom
1.6%
Abnormality of the endocrine system
1.1%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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