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GSTO1

Synonyms
GSTO 1-1, GSTTLp28, HEL-S-21, P28, SPG-R
External resources
Summary
The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three 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
6
Likely pathogenic
0
VUS
2,830
Likely benign
483
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on GSTO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of limbs
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the immune system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the eye
16.7%
Abnormality of the integument
16.7%
Growth abnormality
16.7%
Neoplasm
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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