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TARS2

Synonyms
COXPD21, TARSL1, thrRS
External resources
Summary
This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
0
VUS
4,826
Likely benign
2,232
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on TARS2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
33.3%
Abnormality of head or neck
25%
Abnormality of the ear
25%
Abnormality of the musculoskeletal system
16.7%
Growth abnormality
16.7%
Abnormality of limbs
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the eye
8.3%
Abnormality of the integument
8.3%
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 digestive system
0%
Abnormality of the genitourinary system
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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