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.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

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: GC15P090000

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 chr15:90611684
Transcript ENST00000268154.4
DNA Change c.1315G>A
Protein Change p.Glu439Lys
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