ZNF865

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 UDN participant with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences (read full description).

Date of Report

Oct 07, 2022

Full Name

zinc finger protein 865

Location
Chromosome 19 (19q13.42)
ZNF865-gene.png

Function

The ZNF865 gene is predicted to play a role in transcriptional regulation (NCBI, 2022).

Database Links

GeneCards: GC19P055605
NCBI Gene: 100507290
UniProtKB/Swiss-Prot: P0CJ78

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene ZNF865
Inheritance Pattern Unknown
Position (hg19) chr19:g.56127075C>G
Transcript NM_001195605.1
DNA Change c.2091C>G
Protein Change p.Tyr697Ter
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