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.

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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)

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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