ARHGEF17

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.

Changes in this gene were identified in a female, age 2 with an undiagnosed condition (read full description).

Date of Report

Apr 25, 2016

Full Name

Rho guanine nucleotide exchange factor 17

Location
Chromosome 11 (11q13.4)
ARHGEF17-chr11-73078743_horiz.png

Function

The ARHGEF17 gene codes for a guanine nucleotide exchange factor for RhoA GTPases (Rümenapp et al., 2002 ).

Database Links

GeneCards: GC11P073306

NCBI Gene: 9828

UniProtKB/Swiss-Prot: Q96PE2

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene ARHGEF17
Inheritance Pattern autosomal recessive
Position chr11:73078743
Transcript NM_014786.3
DNA Change c.6110G>A
Protein Change p.R2037Q p.Arg2037Gln
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