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OR8G1

Synonyms
HSTPCR25, OR8G1P, TPCR25
External resources
Summary
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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
5
VUS
35,487
Likely benign
176
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on OR8G1 gene are displayed below. The following symptoms were found in patients with a variant in OR8G1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the eye
37.5%
Abnormality of the nervous system
37.5%
Abnormality of the genitourinary system
31.3%
Abnormality of the immune system
31.3%
Abnormality of the musculoskeletal system
31.3%
Growth abnormality
31.3%
Abnormality of limbs
25%
Abnormality of prenatal development or birth
25%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
18.8%
Abnormality of the ear
18.8%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the respiratory system
12.5%
Abnormality of the integument
6.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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