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VARS1

valyl-tRNA synthetase 1

HCNC Approved Symbol
VARS1 (HGNC:12651)
Genomic Coordinates
6:31,777,518 - 31,795,752 (6p21.33)
Synonyms
VARS2, VARS
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the VARS1 gene.

Frequently observed phenotypes

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

Global developmental delay
 5 (83.3%)
Microcephaly
 4 (66.7%)
Arthrogryposis multiplex congenita
 2 (33.3%)
Seizure
 2 (33.3%)
Abnormality of lingual frenum
 2 (33.3%)
VARS1 - Gene browser | 3billion