MT-TW Chromosome MT
Mitochondrially encoded tRNA-Trp (UGA/G)
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What This Gene Does
"CLNSIG=5
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210117
Associated Conditions (7)
MELAS syndrome
Mitochondrial disease
Inborn mitochondrial myopathy
Primary mitochondrial disorders
Mitochondrial encephalomyopathy
Mitochondrial encephalopathy
Leigh syndrome
Key Variants
RS1603220010
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
RS199474673
Likely pathogenic
Inborn mitochondrial myopathy, MELAS syndrome, Mitochondrial disease
Health Risk
RS387906736
Likely pathogenic
Mitochondrial encephalomyopathy, Mitochondrial disease, Primary mitochondrial disorders
Health Risk
RS199474672
Pathogenic
Mitochondrial encephalopathy, Leigh syndrome, Mitochondrial encephalopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603220010 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MELAS syndrome |
| RS199474673 | Health Risk | Likely pathogenic | Inborn mitochondrial myopathy, MELAS syndrome, Mitochondrial disease |
| RS387906736 | Health Risk | Likely pathogenic | Mitochondrial encephalomyopathy, Mitochondrial disease, Primary mitochondrial disorders |
| RS199474672 | Health Risk | Pathogenic | Mitochondrial encephalopathy, Leigh syndrome, Mitochondrial encephalopathy |