GARS1 Chromosome 7

Glycyl-tRNA synthetase 1
87 variants 87 Health Risk

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What This Gene Does
This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000106105
Associated Conditions (20)
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D
GARS1-related disorder
See cases
Neuronopathy
distal hereditary motor
type 5A
Distal spinal muscular atrophy
Ovarian serous cystadenocarcinoma
Tip-toe gait
type I
autosomal dominant
Spinal muscular atrophy
infantile
James type
Parkinsonian disorder
GARS-associated growth retardation and developmental delay
type 5
Inborn genetic diseases
Key Variants
RS1023871853
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1057519166
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1301948344
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
Health Risk
RS1303447354
Conflicting classifications of pathogenicity
See cases, Charcot-Marie-Tooth disease type 2, Neuronopathy
Health Risk
RS137852645
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease, Neuronopathy
Health Risk
RS137852647
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor
Health Risk
RS137852648
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2D
Health Risk
RS1388554818
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS150213018
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1554338264
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1554338272
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
Health Risk
RS183573304
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (87)
RSID Category Clinical Significance Conditions
RS1023871853 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1057519166 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1301948344 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
RS1303447354 Health Risk Conflicting classifications of pathogenicity See cases, Charcot-Marie-Tooth disease type 2, Neuronopathy
RS137852645 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease, Neuronopathy
RS137852647 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor
RS137852648 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2D
RS1388554818 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS150213018 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1554338264 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1554338272 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
RS183573304 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS191270471 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS192443850 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Neuronopathy
RS199741850 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy
RS199832199 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS200279483 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, GARS1-related disorder
RS200294578 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Neuronopathy
RS200726600 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor
RS200887429 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 5A
RS201132307 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS201358272 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS201432170 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS201447520 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor
RS201728920 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Neuronopathy
RS2534335823 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS367589841 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS367739730 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy
RS369466037 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS369894731 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Distal spinal muscular atrophy, Neuronopathy
RS370057212 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D
RS370608239 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 5A
RS373694973 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS374378925 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS374616031 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS376324026 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2
RS376772628 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor
RS528105619 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS530891983 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
RS538571144 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 5A
RS545669679 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS746056671 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS746139865 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor
RS747080824 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, autosomal dominant
RS747409671 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS750971084 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS753947676 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS756664556 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762624758 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS764238525 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, See cases, Charcot-Marie-Tooth disease type 2
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