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OR4A5

Synonyms
OR11-111
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
29
Likely pathogenic
0
VUS
3,691
Likely benign
35
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on OR4A5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
58.6%
Abnormality of the digestive system
13.8%
Abnormality of the musculoskeletal system
13.8%
Abnormality of the nervous system
13.8%
Abnormality of the ear
10.3%
Abnormality of the immune system
10.3%
Neoplasm
10.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of limbs
6.9%
Growth abnormality
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of head or neck
3.4%
Abnormality of the genitourinary system
3.4%
Abnormality of the integument
3.4%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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