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OR11H12

Synonyms
-
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
132
Likely pathogenic
6
VUS
4,452
Likely benign
6,295
Benign
0

Patient Phenotypes

Proportions of phenotypes among 137 patients carrying pathogenic or likely pathogenic variants on OR11H12 gene are displayed below. The following symptoms were found in patients with a variant in OR11H12. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the musculoskeletal system
23.4%
Abnormality of the eye
20.4%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
13.1%
Growth abnormality
11.7%
Abnormality of blood and blood forming tissues
10.2%
Abnormality of the ear
9.5%
Abnormality of the genitourinary system
8%
Abnormality of the integument
5.8%
Abnormality of limbs
4.4%
Abnormality of the digestive system
4.4%
Abnormality of metabolism homeostasis
3.6%
Abnormality of the immune system
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of the endocrine system
1.5%
Neoplasm
1.5%
Abnormality of prenatal development or birth
0.7%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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