Variant (rsID / SNP)

rs121434464

rs121434464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TL2, MT-ND4. Clinical significance in the table: Benign.

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Reference-table entries

MT-TL2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.12297T>C

Associated conditions / phenotypes

Cardiomyopathy, mitochondrial|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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.