MT-TE Chromosome MT

Mitochondrially encoded tRNA-Glu (GAA/G)
2 variants 2 Health Risk

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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
ENSG00000210194
Associated Conditions (9)
Myopathy
mitochondrial
with diabetes mellitus
Diabetes-deafness syndrome maternally transmitted
Mitochondrial disease
MELAS syndrome
Inborn mitochondrial myopathy
Primary mitochondrial disorders
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Key Variants
RS121434453
Likely pathogenic
Myopathy, mitochondrial, with diabetes mellitus
Health Risk
RS387906421
Likely pathogenic
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease, MELAS syndrome
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS121434453 Health Risk Likely pathogenic Myopathy, mitochondrial, with diabetes mellitus
RS387906421 Health Risk Likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease, MELAS syndrome
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