Variant (rsID / SNP)

rs121434453

rs121434453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TE. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MT-TEPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.14709T>C

Associated conditions / phenotypes

Myopathy, mitochondrial, with diabetes mellitus|Diabetes-deafness syndrome maternally transmitted|Mitochondrial disease|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Inborn mitochondrial myopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.