KARS1 Chromosome 16
Lysyl-tRNA synthetase 1
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What This Gene Does
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000065427
Associated Conditions (33)
Leukoencephalopathy
progressive
infantile-onset
with or without deafness
Hearing impairment
Global developmental delay
Autosomal recessive nonsyndromic hearing loss 89
Leukodystrophy
Sensorineural hearing loss disorder
Charcot-Marie-Tooth disease recessive intermediate B
KARS1-related disorder
Nonsyndromic genetic hearing loss
Abnormal cerebral white matter morphology
Optic neuropathy
Abnormal pyramidal sign
Congenital sensorineural hearing impairment
Progressive cerebellar ataxia
Deafness
congenital
and adult-onset progressive leukoencephalopathy
+13 more conditions
Key Variants
RS1156833108
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS117188693
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS1415687857
Conflicting classifications of pathogenicity
Global developmental delay, Autosomal recessive nonsyndromic hearing loss 89, Leukodystrophy
Health Risk
RS144274136
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS146127444
Conflicting classifications of pathogenicity
Health Risk
RS149772470
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate B, Hearing impairment, KARS1-related disorder
Health Risk
RS2507558889
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS369238198
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS374496494
Conflicting classifications of pathogenicity
Health Risk
RS375699349
Conflicting classifications of pathogenicity
Leukoencephalopathy, progressive, infantile-onset
Health Risk
RS377697859
Conflicting classifications of pathogenicity
Health Risk
RS397514745
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 89, Nonsyndromic genetic hearing loss, Leukoencephalopathy
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1156833108 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, progressive, infantile-onset |
| RS117188693 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS1415687857 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Autosomal recessive nonsyndromic hearing loss 89, Leukodystrophy |
| RS144274136 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS146127444 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149772470 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate B, Hearing impairment, KARS1-related disorder |
| RS2507558889 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, progressive, infantile-onset |
| RS369238198 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, progressive, infantile-onset |
| RS374496494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375699349 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy, progressive, infantile-onset |
| RS377697859 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS397514745 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 89, Nonsyndromic genetic hearing loss, Leukoencephalopathy |
| RS397514746 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89 |
| RS552944283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571409000 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72789443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746531354 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747781002 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760021784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762739500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768560192 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772410450 | Health Risk | Conflicting classifications of pathogenicity | Abnormal cerebral white matter morphology, Optic neuropathy, Abnormal pyramidal sign |
| RS774414684 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776736207 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780462719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1299184638 | Health Risk | Likely pathogenic | Leukoencephalopathy, progressive, infantile-onset |
| RS1301615993 | Health Risk | Likely pathogenic | — |
| RS1370913867 | Health Risk | Likely pathogenic | Leukoencephalopathy, progressive, infantile-onset |
| RS1431954464 | Health Risk | Likely pathogenic | KARS1-related disorder, KARS1-related disorder |
| RS1436436059 | Health Risk | Likely pathogenic | — |
| RS2151809445 | Health Risk | Likely pathogenic | Global developmental delay, Seizure, Nystagmus |
| RS2507556167 | Health Risk | Likely pathogenic | Leukoencephalopathy, progressive, infantile-onset |
| RS372025031 | Health Risk | Likely pathogenic | — |
| RS869312925 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS916922696 | Health Risk | Likely pathogenic | — |
| RS1299524768 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89 |
| RS1555512658 | Health Risk | Pathogenic | Deafness, congenital, and adult-onset progressive leukoencephalopathy |
| RS1567498374 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Lactic acidosis, Hypotonia |
| RS200848719 | Health Risk | Pathogenic | — |
| RS2082153181 | Health Risk | Pathogenic | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET |
| RS2082208014 | Health Risk | Pathogenic | — |
| RS2151805582 | Health Risk | Pathogenic | — |
| RS267607194 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate B, Charcot-Marie-Tooth disease recessive intermediate B |
| RS587776688 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate B, Charcot-Marie-Tooth disease recessive intermediate B |
| RS758199406 | Health Risk | Pathogenic | — |
| RS760134437 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89 |
| RS768349236 | Health Risk | Pathogenic | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET |
| RS770522582 | Health Risk | Pathogenic | Leukoencephalopathy, progressive, infantile-onset |
| RS778748895 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 89, LEUKOENCEPHALOPATHY, PROGRESSIVE |
| RS201650281 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Progressive cerebellar ataxia, Abnormal cerebral white matter morphology |