Home > Gene Browser > OR7C1

OR7C1

Synonyms
CIT-HSP-146E8, HSTPCR86P, OR19-5, OR7C4, TPCR86
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
11
Likely pathogenic
83
VUS
357
Likely benign
363
Benign
0

Patient phenotypes

Proportions of phenotypes among 94 patients carring pathogenic or likely pathogenic variants on OR7C1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.9%
Abnormality of the musculoskeletal system
43.6%
Abnormality of head or neck
34%
Abnormality of the eye
30.9%
Abnormality of the ear
19.1%
Abnormality of limbs
17%
Abnormality of the cardiovascular system
17%
Abnormality of the integument
17%
Growth abnormality
16%
Abnormality of the genitourinary system
12.8%
Abnormality of the digestive system
8.5%
Abnormality of the respiratory system
8.5%
Abnormality of the immune system
7.4%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the breast
3.2%
Constitutional symptom
2.1%
Neoplasm
2.1%
Abnormal cellular phenotype
1.1%
Abnormality of the voice
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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