MT-TV Chromosome MT

Mitochondrially encoded tRNA-Val (GUN)
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
ENSG00000210077
Associated Conditions (5)
Leigh syndrome
MELAS syndrome
mitochondrial
Mitochondrial disease
Primary mitochondrial disorders
Key Variants
RS199476144
Likely pathogenic
Leigh syndrome, MELAS syndrome, mitochondrial
Health Risk
RS587776441
Likely pathogenic
MELAS syndrome, Mitochondrial disease, Primary mitochondrial disorders
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS199476144 Health Risk Likely pathogenic Leigh syndrome, MELAS syndrome, mitochondrial
RS587776441 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease, Primary mitochondrial disorders
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