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GSTO2

Synonyms
GSTO 2-2, bA127L20.1
External resources
Summary
The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.

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
16
Likely pathogenic
0
VUS
974
Likely benign
19
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on GSTO2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
20%
Abnormality of the ear
20%
Abnormality of limbs
13.3%
Abnormality of the integument
13.3%
Abnormality of the cardiovascular system
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the genitourinary system
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune 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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