Variant (rsID / SNP)

rs207460002

rs207460002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-CYB. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MT-CYBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.15579A>G

Associated conditions / phenotypes

Multisystem disorder|Mitochondrial myopathy with reversible cytochrome C oxidase deficiency|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.