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OR5AC2

Synonyms
HSA1
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
19
Likely pathogenic
0
VUS
971
Likely benign
768
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on OR5AC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.6%
Abnormality of the nervous system
31.6%
Abnormality of the musculoskeletal system
26.3%
Abnormality of the integument
21.1%
Abnormality of the digestive system
15.8%
Abnormality of the respiratory system
15.8%
Abnormality of head or neck
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the cardiovascular system
5.3%
Abnormality of the immune system
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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