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 ZNF345 gene was identified in a UDN participant with seizures, hearing loss (sensorineural), vision loss, and a decline in language skills

Date of Report

Jul 19, 2023

Full Name

ZNF345- Zinc Finger Protein 345

Chromosome 19q13.12


ZNF345, also known as Zinc Finger Protein 345, is suspected to be involved in binding double-stranded DNA in order to regulate transcription by RNA Polymerase II (Alliance of Genome Resources, 2022).


Database Links

GeneCards: ZNF345

NCBI Gene: 25850

UniProtKB/Swiss-Prot: A0A0D9SB33

Clinical Significance

A heterozygous de novo change in this gene was identified in a UDN participant.

Gene ZNF345
Inheritance Pattern Autosomal dominant
Position (hg19) g.37368885C>T
Transcript NM_003419.4
DNA Change c.1153C>T
Protein Change p.Leu385Phe
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