G3BP1

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.

Date of Report

Jun 12, 2018

Full Name

G3BP stress granule assembly factor 1

Location
Chromosome 5 (5q33.1)


Function

The G3BP1 gene codes for an enzyme involved in unwinding DNA (Costa et al., 1999).

Database Links

GeneCards: GC05P151771

NCBI Gene: 10146 

OMIM: 608431

UniProtKB/Swiss-Prot: Q13283

Clinical Significance

A 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 G3BP1
Inheritance Pattern Autosomal dominant
Position Chr5: 151170624
Transcript NM_005754.2
DNA Change c.351+1G>T
Protein Change intronic
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