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ARHGEF5

Synonyms
GEF5, P60, TIM, TIM1
External resources
Summary
Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
18,591
Likely benign
44,540
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ARHGEF5 gene.

Phenotype class
Patients in 3billion (%)

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