MT-TL2 Chromosome MT
Mitochondrially encoded tRNA-Leu (CUN) 2
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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
ENSG00000210191
Associated Conditions (4)
MELAS syndrome
Mitochondrial disease
Diabetes-deafness syndrome maternally transmitted
Mitochondrial encephalomyopathy
Key Variants
RS1603223646
Conflicting classifications of pathogenicity
MELAS syndrome, Mitochondrial disease, Diabetes-deafness syndrome maternally transmitted
Health Risk
RS121434462
Likely pathogenic
Mitochondrial encephalomyopathy, MELAS syndrome, Mitochondrial disease
Health Risk
RS1603223645
Likely pathogenic
MELAS syndrome, Mitochondrial disease, MELAS syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603223646 | Health Risk | Conflicting classifications of pathogenicity | MELAS syndrome, Mitochondrial disease, Diabetes-deafness syndrome maternally transmitted |
| RS121434462 | Health Risk | Likely pathogenic | Mitochondrial encephalomyopathy, MELAS syndrome, Mitochondrial disease |
| RS1603223645 | Health Risk | Likely pathogenic | MELAS syndrome, Mitochondrial disease, MELAS syndrome |