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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

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
0
Likely pathogenic
0
VUS
9,380
Likely benign
455
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ZNF713 gene.

Phenotype class
Patients in 3billion (%)

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