Variant (rsID / SNP)

rs121434469

rs121434469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TI, MT-CO1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MT-TIUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.4290T>C

Associated conditions / phenotypes

Encephalopathy, familial progressive necrotizing|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.