MT-TI Chromosome MT

Mitochondrially encoded tRNA-Ile (AUU/C)
1 variant 1 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
ENSG00000210100
Associated Conditions (6)
Primary familial hypertrophic cardiomyopathy
Asymmetric septal hypertrophy
Primary dilated cardiomyopathy
MERRF syndrome
Mitochondrial disease
MT-TI-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS121434470 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Primary dilated cardiomyopathy
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