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MARS1

methionyl-tRNA synthetase 1

HCNC Approved Symbol
MARS1 (HGNC:6898)
Genomic Coordinates
12:57,488,068 - 57,516,652 (12q13.3)
Synonyms
MetRS, SPG70, CMT2U, MARS
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Trichothiodystrophy 9, nonphotosensitive
619692AR
Charcot-Marie-Tooth disease, axonal, type 2U
616280AD
Interstitial lung and liver disease
615486AR
Spastic paraplegia 70, autosomal recessive
620323AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the MARS1 gene.

Frequently observed phenotypes

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

Progressive muscle weakness
 1 (100.0%)