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MRGPRX1

Synonyms
GPCR, MGRG2, MRGX1, SNSR4
External resources

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
20
Likely pathogenic
0
VUS
655
Likely benign
35
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on MRGPRX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
45%
Abnormality of the eye
35%
Growth abnormality
35%
Abnormality of limbs
30%
Abnormality of the cardiovascular system
30%
Abnormality of the digestive system
15%
Abnormality of the endocrine system
15%
Abnormality of the integument
15%
Abnormality of the respiratory system
15%
Abnormality of blood and blood-forming tissues
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of prenatal development or birth
5%
Abnormality of the ear
5%
Abnormality of the voice
5%
Constitutional symptom
5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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