Variant (rsID / SNP)

rs376606918

rs376606918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TH. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MT-THConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: -
HGVS: NC_012920.1(MT-TH):m.12153C>T

Associated conditions / phenotypes

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.