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OR13H1

Synonyms
ORX1
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
5
Likely pathogenic
15
VUS
127
Likely benign
128
Benign
0

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on OR13H1 gene are displayed below. The following symptoms were found in patients with a variant in OR13H1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the musculoskeletal system
40%
Abnormality of the ear
25%
Abnormality of the eye
25%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the genitourinary system
20%
Abnormality of blood and blood forming tissues
15%
Abnormality of the digestive system
15%
Abnormality of the integument
15%
Growth abnormality
15%
Abnormality of the cardiovascular system
10%
Abnormality of metabolism homeostasis
5%
Abnormality of the endocrine system
5%
Abnormality of the immune system
5%
Abnormality of the respiratory system
5%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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