Home > Gene Browser > OR8D1

OR8D1

Synonyms
JCG9, OR8D3, OST004, PDJ9J14
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
38
Likely pathogenic
0
VUS
329
Likely benign
162
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on OR8D1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of the eye
31.6%
Abnormality of the ear
28.9%
Abnormality of the musculoskeletal system
26.3%
Growth abnormality
26.3%
Abnormality of head or neck
21.1%
Abnormality of the cardiovascular system
13.2%
Abnormality of the genitourinary system
13.2%
Abnormality of limbs
7.9%
Abnormality of the endocrine system
7.9%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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