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OR7A5

Synonyms
HTPCR2
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
2
Likely pathogenic
62
VUS
1,310
Likely benign
476
Benign
0

Patient phenotypes

Proportions of phenotypes among 64 patients carring pathogenic or likely pathogenic variants on OR7A5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.1%
Abnormality of the musculoskeletal system
43.8%
Abnormality of head or neck
37.5%
Abnormality of the eye
21.9%
Abnormality of the integument
20.3%
Abnormality of limbs
17.2%
Abnormality of the ear
15.6%
Growth abnormality
15.6%
Abnormality of the genitourinary system
14.1%
Abnormality of the digestive system
12.5%
Abnormality of blood and blood-forming tissues
10.9%
Abnormality of the immune system
9.4%
Abnormality of the respiratory system
9.4%
Abnormality of the cardiovascular system
4.7%
Neoplasm
4.7%
Abnormality of the voice
3.1%
Abnormal cellular phenotype
1.6%
Abnormality of prenatal development or birth
1.6%
Abnormality of the breast
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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