Variant (rsID / SNP)

rs199476123

rs199476123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-ND1, MT-CO1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MT-ND1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.3946G>A

Associated conditions / phenotypes

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Leigh syndrome|Leber optic atrophy

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.