ARHGEF10L Chromosome 1

Rho guanine nucleotide exchange factor 10 like

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in ARHGEF10L.

What This Gene Does

This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]

Gene Info

Gene Group

Dbl family Rho GEFs

Locus Type

gene with protein product

Location

1p36.13

Ensembl

ENSG00000074964

Associated Conditions (1)

Cerebral visual impairment and intellectual disability

Key Variants

RS149908903

Likely pathogenic

Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS149908903	Health Risk	Likely pathogenic	Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability