Home > Gene Browser > OR2H1

OR2H1

Synonyms
6M1-16, HS6M1-16, OLFR42A-9004-14, OLFR42A-9004.14/9026.2, OR2H6, OR2H8, OR6-2, dJ994E9.4
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
6
Likely pathogenic
114
VUS
1,290
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 120 patients carring pathogenic or likely pathogenic variants on OR2H1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
59.2%
Abnormality of the musculoskeletal system
55.8%
Abnormality of head or neck
49.2%
Abnormality of the eye
39.2%
Abnormality of limbs
30.8%
Growth abnormality
26.7%
Abnormality of the integument
23.3%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
17.5%
Abnormality of the digestive system
14.2%
Abnormality of the genitourinary system
12.5%
Abnormality of the immune system
8.3%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the endocrine system
5%
Abnormality of the respiratory system
3.3%
Abnormality of prenatal development or birth
2.5%
Constitutional symptom
2.5%
Neoplasm
2.5%
Abnormal cellular phenotype
0.8%
Abnormality of the thoracic cavity
0.8%
Abnormality of the voice
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%

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