ZNF345

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 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

Location

Chromosome 19q13.12

Function

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

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!