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MRGPRX3

Synonyms
GPCR, MRGX3, SNSR1, SNSR2
External resources
Summary
This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain.

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
39
Likely pathogenic
0
VUS
609
Likely benign
6
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carring pathogenic or likely pathogenic variants on MRGPRX3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
71.8%
Abnormality of the musculoskeletal system
53.8%
Abnormality of head or neck
46.2%
Growth abnormality
35.9%
Abnormality of the eye
33.3%
Abnormality of the integument
25.6%
Abnormality of the cardiovascular system
23.1%
Abnormality of the digestive system
20.5%
Abnormality of the immune system
15.4%
Abnormality of limbs
12.8%
Abnormality of the ear
12.8%
Abnormality of the genitourinary system
12.8%
Abnormality of the respiratory system
12.8%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of prenatal development or birth
2.6%
Abnormality of the breast
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the voice
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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