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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
139
Likely pathogenic
11
VUS
8,528
Likely benign
2,438
Benign
0

Patient phenotypes

Proportions of phenotypes among 148 patients carring pathogenic or likely pathogenic variants on ARHGEF5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.9%
Abnormality of the musculoskeletal system
33.1%
Abnormality of the eye
31.1%
Abnormality of head or neck
23%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
14.9%
Abnormality of the ear
14.2%
Abnormality of limbs
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the digestive system
9.5%
Abnormality of the immune system
9.5%
Abnormality of the integument
8.8%
Abnormality of the respiratory system
5.4%
Abnormality of blood and blood-forming tissues
3.4%
Neoplasm
2.7%
Abnormality of prenatal development or birth
1.4%
Abnormality of the endocrine system
1.4%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.7%
Constitutional symptom
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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