Variant (rsID / SNP)

rs387906422

rs387906422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-ATP6, MT-ATP8. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MT-ATP6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.8528T>C

Associated conditions / phenotypes

Cardiomyopathy, infantile hypertrophic|Histiocytoid cardiomyopathy|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.