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OR6P1

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
11
Likely pathogenic
17
VUS
526
Likely benign
242
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on OR6P1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40.7%
Abnormality of the eye
37%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
25.9%
Abnormality of limbs
14.8%
Abnormality of the immune system
14.8%
Growth abnormality
14.8%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
7.4%
Abnormality of the integument
7.4%
Abnormal cellular phenotype
3.7%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of prenatal development or birth
3.7%
Abnormality of the digestive system
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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