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OR1S2

Synonyms
OR11-231
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
24
Likely pathogenic
0
VUS
2,420
Likely benign
1,998
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carring pathogenic or likely pathogenic variants on OR1S2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the integument
33.3%
Growth abnormality
20.8%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the respiratory system
12.5%
Abnormality of the endocrine system
8.3%
Abnormality of prenatal development or birth
4.2%
Abnormality of the immune system
4.2%
Constitutional symptom
4.2%
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 thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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