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OR10H4

Synonyms
OR19-28
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
42
Likely pathogenic
38
VUS
382
Likely benign
89
Benign
0

Patient Phenotypes

Proportions of phenotypes among 80 patients carrying pathogenic or likely pathogenic variants on OR10H4 gene are displayed below. The following symptoms were found in patients with a variant in OR10H4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the musculoskeletal system
48.8%
Abnormality of the eye
38.8%
Abnormality of head or neck
37.5%
Abnormality of the ear
32.5%
Growth abnormality
25%
Abnormality of limbs
23.8%
Abnormality of the integument
22.5%
Abnormality of the cardiovascular system
13.8%
Abnormality of the digestive system
13.8%
Abnormality of the genitourinary system
10%
Abnormality of metabolism homeostasis
8.8%
Abnormality of the respiratory system
8.8%
Abnormality of the immune system
5%
Abnormality of prenatal development or birth
3.8%
Abnormality of the endocrine system
3.8%
Abnormal cellular phenotype
1.3%
Abnormality of blood and blood forming tissues
1.3%
Abnormality of the breast
1.3%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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