Variant (rsID / SNP)

rs121434467

rs121434467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TI, MT-CO1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MT-TIConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.4295A>G

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Mitochondrial non-syndromic sensorineural hearing loss|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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.