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OR7C2

Synonyms
CIT-HSP-87M17, OR19-18, OR7C3
External resources
Summary
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.

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
27
Likely pathogenic
0
VUS
368
Likely benign
67
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on OR7C2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
55.6%
Abnormality of the nervous system
33.3%
Abnormality of the ear
29.6%
Abnormality of the musculoskeletal system
14.8%
Abnormality of the genitourinary system
7.4%
Abnormality of limbs
3.7%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Growth abnormality
3.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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