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OR2H2

Synonyms
FAT11, OLFR2, OLFR42B, OR2H3, dJ271M21.2, hs6M1-12
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
12
Likely pathogenic
8
VUS
2,173
Likely benign
81
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on OR2H2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of head or neck
35%
Abnormality of the musculoskeletal system
35%
Abnormality of the cardiovascular system
30%
Abnormality of the eye
30%
Growth abnormality
25%
Abnormality of the integument
20%
Abnormality of limbs
15%
Abnormality of the immune system
15%
Abnormality of blood and blood-forming tissues
10%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormal cellular phenotype
5%
Abnormality of the respiratory system
5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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