3billion
back to listBack to List

CARS1

cysteinyl-tRNA synthetase 1

HCNC Approved Symbol
CARS1 (HGNC:1493)
Genomic Coordinates
11:3,000,929 - 3,057,423 (11p15.4)
Synonyms
CARS
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the CARS1 gene.

Frequently observed phenotypes

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

Broad nasal tip
 2 (50.0%)
Deep set eye
 2 (50.0%)
Deeply set eye
 2 (50.0%)
Delayed speech and language development
 2 (50.0%)
Failure to thrive
 2 (50.0%)
CARS1 - Gene browser | 3billion