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ARHGAP29

Synonyms
PARG1
External resources
Summary
Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate.

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
18
Likely pathogenic
0
VUS
1,367
Likely benign
2,439
Benign
3,378

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on ARHGAP29 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the integument
22.2%
Abnormality of the eye
16.7%
Abnormality of head or neck
11.1%
Abnormality of limbs
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the respiratory system
5.6%
Constitutional symptom
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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