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OR6C1

Synonyms
OST267
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
18
Likely pathogenic
0
VUS
245
Likely benign
117
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on OR6C1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
55.6%
Abnormality of head or neck
38.9%
Abnormality of the cardiovascular system
27.8%
Abnormality of the nervous system
27.8%
Growth abnormality
27.8%
Abnormality of limbs
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the digestive system
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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