Variant (rsID / SNP)

rs199474673

rs199474673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TW, MT-CO1. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MT-TWLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.5521G>A

Associated conditions / phenotypes

Inborn mitochondrial myopathy|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Mitochondrial disease

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.