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OR2T6

Synonyms
OR2T6P, OR2T9, OST703
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
15
Likely pathogenic
0
VUS
313
Likely benign
239
Benign
0

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on OR2T6 gene are displayed below. The following symptoms were found in patients with a variant in OR2T6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
60%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the nervous system
26.7%
Abnormality of head or neck
20%
Abnormality of limbs
13.3%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the immune system
13.3%
Abnormality of the integument
13.3%
Growth abnormality
13.3%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of metabolism homeostasis
6.7%
Abnormality of the breast
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the respiratory system
6.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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