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RHOBTB3

Synonyms
-
External resources
Summary
RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).

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
22
Likely pathogenic
276
VUS
2,034
Likely benign
99
Benign
0

Patient phenotypes

Proportions of phenotypes among 298 patients carring pathogenic or likely pathogenic variants on RHOBTB3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
45%
Abnormality of the nervous system
39.6%
Abnormality of the musculoskeletal system
22.1%
Abnormality of head or neck
18.1%
Abnormality of limbs
10.4%
Growth abnormality
8.7%
Abnormality of the integument
8.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the cardiovascular system
6.4%
Abnormality of the ear
6.4%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the digestive system
5.7%
Abnormality of the immune system
5.4%
Abnormality of the endocrine system
2.7%
Neoplasm
2.7%
Constitutional symptom
2.3%
Abnormality of prenatal development or birth
1.7%
Abnormal cellular phenotype
1.3%
Abnormality of the respiratory system
0.7%
Abnormality of the breast
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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