rs2129075111

This variant is located in the ARHGEF10 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

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About ARHGEF10

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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