DARS2 Chromosome 1
Aspartyl-tRNA synthetase 2, mitochondrial
Upload your DNA to see your personal genotypes for variants in DARS2.
What This Gene Does
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
1q25.1
Ensembl
ENSG00000117593
Associated Conditions (20)
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Spastic ataxia
Mitochondrial disease
DARS2-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Familial cancer of breast
Thymoma
Clear cell carcinoma of kidney
Pancreatic adenocarcinoma
Malignant tumor of urinary bladder
See cases
Gait ataxia
Gait imbalance
Dysmetria
10 conditions
Ovarian serous cystadenocarcinoma
CHARCOT-MARIE-TOOTH DISEASE
AXONAL
TYPE 2LL
Key Variants
RS1064793097
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS1064794825
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS114714497
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS1209550754
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS1279409996
Conflicting classifications of pathogenicity
Spastic ataxia, Mitochondrial disease, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS143246542
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS149598381
Conflicting classifications of pathogenicity
DARS2-related disorder, Inborn genetic diseases, DARS2-related disorder
Health Risk
RS181672516
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS182096636
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS182811621
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
RS201817953
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Uterine corpus endometrial carcinoma, Familial cancer of breast
Health Risk
RS201876507
Conflicting classifications of pathogenicity
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142433332 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Gait ataxia, Gait imbalance |
| RS1553200766 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS1553201258 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Dysmetria, Gait ataxia |
| RS1553204327 | Health Risk | Pathogenic | — |
| RS1557852943 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS1571995707 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS1653178441 | Health Risk | Pathogenic | — |
| RS2102629804 | Health Risk | Pathogenic | — |
| RS2102636056 | Health Risk | Pathogenic | Spastic ataxia, Spastic ataxia |
| RS2525817360 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS2525817489 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS2525868703 | Health Risk | Pathogenic | — |
| RS2525878524 | Health Risk | Pathogenic | — |
| RS367892718 | Health Risk | Pathogenic | — |
| RS780089971 | Health Risk | Pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS1085307776 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918207 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS121918210 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS1229799153 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS149035108 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Inborn genetic diseases |
| RS1557852998 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS200392167 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS2102641279 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS746924883 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS751929342 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS753732596 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS770447116 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS772489337 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS773706813 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS778731200 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS781336428 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| RS972404343 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |