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

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) chr19:g.37368885C>T
Transcript NM_003419.4
DNA Change c.1153C>T
Protein Change p.Leu385Phe
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