MT-TS2 Chromosome MT

Mitochondrially encoded tRNA-Ser (AGU/C) 2
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
ENSG00000210184
Associated Conditions (6)
MELAS syndrome
Cerebellar ataxia
cataract
and diabetes mellitus
Retinitis pigmentosa-deafness syndrome
Mitochondrial disease
Key Variants
RS28359170
Conflicting classifications of pathogenicity
MELAS syndrome, MELAS syndrome
Health Risk
RS118203888
Likely pathogenic
Cerebellar ataxia, cataract, and diabetes mellitus
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS28359170 Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS118203888 Health Risk Likely pathogenic Cerebellar ataxia, cataract, and diabetes mellitus
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