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OR13G1

Synonyms
OR1-37
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
10
Likely pathogenic
3
VUS
546
Likely benign
161
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on OR13G1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
53.8%
Abnormality of head or neck
46.2%
Abnormality of the nervous system
46.2%
Growth abnormality
30.8%
Abnormality of limbs
23.1%
Abnormality of the integument
23.1%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the ear
15.4%
Abnormality of the endocrine system
15.4%
Abnormality of the eye
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of the cardiovascular system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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