ZNF710

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in this gene was identified in a male, age 4 with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay (read full description).

Date of Report

Oct 11, 2017

Full Name

zinc finger protein 710

Location

Chromosome 15 (15q26.1)

Function

The ZNF710 gene codes for a protein that binds to zinc (Thiesen, 1990).

Database Links

GeneCards: ZNF710

NCBI Gene: 374655

OMIM: 194538

UniProtKB/Swiss-Prot: Q8N1W2

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

Gene ZNF710

Inheritance Pattern Autosomal dominant

Position (hg19) chr15:g.90611684G>A

Transcript NM_198526.4

DNA Change c.1315G>A

Protein Change p.Glu439Lys

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