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ZNF638

Synonyms
NP220, ZFML, Zfp638
External resources
Summary
The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined.

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
10
Likely pathogenic
0
VUS
3,376
Likely benign
3,388
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on ZNF638 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Growth abnormality
30%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
10%
Abnormality of limbs
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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