Variant (rsID / SNP)

rs201544686

rs201544686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTO1. Location: chromosome 6, position 74,191,932. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MTO1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:74191932
Cytoband: 6q13
HGVS: NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
Allele change: Missense_R502H

Associated conditions / phenotypes

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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.