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 female, age 3, 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: ZNF483

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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