FGD4

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 FGD4 gene was identified in a UDN participant with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

Date of Report

Jul 17, 2023

Full Name

FYVE, RhoGEF And PH Domain Containing 4

Location

Chromosome 12 (12p11.21)

Function

This gene codes for a protein that helps with regulating the shape and the actin cytoskeleton of the cell (Chen et al. 2004).

Database Links

GeneCards: GC12P032407

NCBI Gene: 121512

OMIM: 611104

UniProtKB/Swiss-Prot: Q96M96

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant .

Gene FGD4

Inheritance Pattern Autosomal recessive

Position (hg19) chr12:g.32786608_ 32786612del

Transcript NM_139241.3

DNA Change c.1887_1891del

Protein Change p.Lys630AsnfsTer5

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