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CARS2

cysteinyl-tRNA synthetase 2, mitochondrial

HCNC Approved Symbol
CARS2 (HGNC:25695)
Genomic Coordinates
13:110,641,410 - 110,713,522 (13q34)
Synonyms
FLJ12118
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CARS2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Congenital hip dysplasia
 1 (33.3%)
Constipation
 1 (33.3%)
Developmental delay
 1 (33.3%)
Dysmorphic features
 1 (33.3%)
Encephalopathy
 1 (33.3%)
CARS2 - Gene browser | 3billion