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ZNF713

Synonyms
-
External resources
Summary
The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder.

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
13
Likely pathogenic
0
VUS
588
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on ZNF713 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.8%
Abnormality of the ear
23.1%
Abnormality of the eye
23.1%
Abnormality of the genitourinary system
15.4%
Abnormality of the immune system
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of head or neck
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the musculoskeletal system
7.7%
Growth abnormality
7.7%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 endocrine 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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