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GPR33

Synonyms
-
External resources
Summary
This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.

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
9
Likely pathogenic
17
VUS
3,616
Likely benign
88
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on GPR33 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
46.2%
Abnormality of the nervous system
42.3%
Abnormality of the musculoskeletal system
19.2%
Abnormality of head or neck
15.4%
Abnormality of the integument
15.4%
Abnormality of limbs
3.8%
Abnormality of the cardiovascular system
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the ear
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the immune system
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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