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.

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A change in the ZNF865 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)

Function

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

Database Links

GeneCards: ZNF865
NCBI Gene: 100507290
UniProtKB/Swiss-Prot: P0CJ78

Clinical Significance

A de novo change in this gene was identified in a UDN 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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