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ZNF821

Synonyms
-
External resources
Summary
This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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
2
Likely pathogenic
0
VUS
1,606
Likely benign
135
Benign
0

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on ZNF821 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of prenatal development or birth
50%
Abnormality of the cardiovascular system
50%
Abnormality of the digestive system
50%
Abnormality of the endocrine system
50%
Abnormality of the eye
50%
Abnormality of the genitourinary system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Growth abnormality
50%
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 ear
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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