ZNF483

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 ZNF483 gene was identified in a 3-year-old female with multiple congenital anomalies (read full description).

Date of Report

Jul 26, 2021

Full Name

Zinc finger protein 483

Location
Chromosome 9 (9q31.3)
Chromosome-9.png

Function

The ZNF483 gene is thought to play a role in neuronal differentiation (Yasui et al. 2021).

Database Links

GeneCards: GC09P111525

NCBI Gene: 158399

UniProtKB/Swiss-Prot: Q8TF39

Clinical Significance

A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene ZNF483
Inheritance Pattern Autosomal dominant
Position (hg19) chr9:g.114291606A>G
Transcript NM_133464.2
DNA Change c.412+1519A>G
Protein Change N/A
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