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OR6C3

Synonyms
OST709
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
43
Likely pathogenic
9
VUS
1,549
Likely benign
63
Benign
0

Patient phenotypes

Proportions of phenotypes among 52 patients carring pathogenic or likely pathogenic variants on OR6C3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.9%
Abnormality of the musculoskeletal system
38.5%
Abnormality of head or neck
26.9%
Abnormality of the cardiovascular system
21.2%
Abnormality of the eye
21.2%
Growth abnormality
21.2%
Abnormality of limbs
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the integument
15.4%
Abnormality of the ear
11.5%
Neoplasm
11.5%
Abnormality of the endocrine system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
5.8%
Abnormality of the respiratory system
5.8%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the breast
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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