ARHGEF10 Chromosome 8

Rho guanine nucleotide exchange factor 10

32 variants 32 Health Risk

Upload your DNA to see your personal genotypes for variants in ARHGEF10.

What This Gene Does

This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Gene Info

Gene Group

Dbl family Rho GEFs

Locus Type

gene with protein product

Location

8p23.3

Ensembl

ENSG00000104728

Associated Conditions (4)

Autosomal dominant slowed nerve conduction velocity

ARHGEF10-related disorder

Charcot-Marie-Tooth disease

Gastric cancer

Key Variants

RS1057523214

Conflicting classifications of pathogenicity

Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity

Health Risk

RS111978809

Conflicting classifications of pathogenicity

Health Risk

RS138879766

Conflicting classifications of pathogenicity

Health Risk

RS139804042

Conflicting classifications of pathogenicity

Health Risk

RS143290224

Conflicting classifications of pathogenicity

Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity

Health Risk

RS143325951

Conflicting classifications of pathogenicity

Health Risk

RS144835192

Conflicting classifications of pathogenicity

Health Risk

RS145754440

Conflicting classifications of pathogenicity

Health Risk

RS146529284

Conflicting classifications of pathogenicity

Health Risk

RS147395180

Conflicting classifications of pathogenicity

Health Risk

RS147531758

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, Autosomal dominant slowed nerve conduction velocity, Charcot-Marie-Tooth disease

Health Risk

RS147825414

Conflicting classifications of pathogenicity

Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity

Health Risk

All Variants (32)

RSID	Category	Clinical Significance	Conditions
RS1057523214	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS111978809	Health Risk	Conflicting classifications of pathogenicity	—
RS138879766	Health Risk	Conflicting classifications of pathogenicity	ARHGEF10-related disorder, ARHGEF10-related disorder
RS139804042	Health Risk	Conflicting classifications of pathogenicity	—
RS143290224	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS143325951	Health Risk	Conflicting classifications of pathogenicity	—
RS144835192	Health Risk	Conflicting classifications of pathogenicity	ARHGEF10-related disorder, ARHGEF10-related disorder
RS145754440	Health Risk	Conflicting classifications of pathogenicity	ARHGEF10-related disorder, ARHGEF10-related disorder
RS146529284	Health Risk	Conflicting classifications of pathogenicity	—
RS147395180	Health Risk	Conflicting classifications of pathogenicity	—
RS147531758	Health Risk	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, Autosomal dominant slowed nerve conduction velocity, Charcot-Marie-Tooth disease
RS147825414	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS148715187	Health Risk	Conflicting classifications of pathogenicity	—
RS150226594	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS150372520	Health Risk	Conflicting classifications of pathogenicity	—
RS151080025	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS201433824	Health Risk	Conflicting classifications of pathogenicity	—
RS201912073	Health Risk	Conflicting classifications of pathogenicity	—
RS34036746	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Gastric cancer, Autosomal dominant slowed nerve conduction velocity
RS35925274	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS372954109	Health Risk	Conflicting classifications of pathogenicity	—
RS373928792	Health Risk	Conflicting classifications of pathogenicity	—
RS374670875	Health Risk	Conflicting classifications of pathogenicity	—
RS375455536	Health Risk	Conflicting classifications of pathogenicity	—
RS527488398	Health Risk	Conflicting classifications of pathogenicity	—
RS587777712	Health Risk	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease, Autosomal dominant slowed nerve conduction velocity, Charcot-Marie-Tooth disease
RS751134443	Health Risk	Conflicting classifications of pathogenicity	—
RS752621741	Health Risk	Conflicting classifications of pathogenicity	—
RS755067873	Health Risk	Conflicting classifications of pathogenicity	—
RS756594069	Health Risk	Conflicting classifications of pathogenicity	—
RS766536002	Health Risk	Conflicting classifications of pathogenicity	—
RS775934719	Health Risk	Conflicting classifications of pathogenicity	—