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.

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A change in this gene was identified in a male, age 12, with developmental regression, absent speech, seizures, and distinct facial features (read full description).

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: G3BP1

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 (hg19) chr5:g.151170624G>T

Transcript NM_005754.2

DNA Change c.351+1G>T

Protein Change N/A

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