LARS2 Chromosome 3
Leucyl-tRNA synthetase 2, mitochondrial
Upload your DNA to see your personal genotypes for variants in LARS2.
What This Gene Does
This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000011376
Associated Conditions (9)
Inborn mitochondrial myopathy
Inborn genetic diseases
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Perrault syndrome 4
LARS2-related disorder
Rare genetic deafness
Perrault syndrome
LARS2-Related Disorders
Nonsyndromic genetic hearing loss
Key Variants
RS116826217
Conflicting classifications of pathogenicity
Inborn mitochondrial myopathy, Inborn mitochondrial myopathy
Health Risk
RS1314350298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138121304
Conflicting classifications of pathogenicity
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, LARS2-related disorder
Health Risk
RS138437422
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138699045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141011840
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143155251
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145504843
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199693918
Conflicting classifications of pathogenicity
Health Risk
RS199702518
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201911936
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35347543
Conflicting classifications of pathogenicity
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2529019979 | Health Risk | Pathogenic | — |
| RS398123037 | Health Risk | Pathogenic | Perrault syndrome 4, Perrault syndrome, Perrault syndrome 4 |
| RS752015037 | Health Risk | Pathogenic | — |
| RS759532553 | Health Risk | Pathogenic | LARS2-Related Disorders, LARS2-Related Disorders |
| RS762797278 | Health Risk | Pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS776171893 | Health Risk | Pathogenic | Perrault syndrome 4, Perrault syndrome 4 |
| RS779962003 | Health Risk | Pathogenic | — |
| RS864309643 | Health Risk | Pathogenic | Perrault syndrome 4, Perrault syndrome 4 |
| RS879255606 | Health Risk | Pathogenic | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| RS1163473923 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1213550131 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1214818871 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS199589947 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Rare genetic deafness |
| RS398123036 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome, Perrault syndrome 4, Nonsyndromic genetic hearing loss |
| RS749627411 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 4, Perrault syndrome, Perrault syndrome 4 |
| RS763616548 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 4, Perrault syndrome 4 |
| RS774649299 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome 4, Perrault syndrome 4 |
| RS786205560 | Health Risk | Pathogenic/Likely pathogenic | Perrault syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4 |