Variant (rsID / SNP)

rs199476127

rs199476127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-CO1, MT-ATP6. Clinical significance in the table: Pathogenic.

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Reference-table entries

MT-CO1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.6721T>C

Associated conditions / phenotypes

Myelodysplastic syndrome with ring sideroblasts

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.