Home > Gene Browser > OR9G1

OR9G1

Synonyms
OR9G5
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
14
Likely pathogenic
0
VUS
871
Likely benign
161
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on OR9G1 gene are displayed below. The following symptoms were found in patients with a variant in OR9G1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
28.6%
Abnormality of the digestive system
28.6%
Growth abnormality
28.6%
Abnormality of the ear
21.4%
Abnormality of the endocrine system
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of metabolism homeostasis
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of limbs
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of the thoracic cavity
7.1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.