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Variant (rsID / SNP)

rs201431517

MTFMT

rs201431517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTFMT. Location: chromosome 15, position 65,313,871. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTFMTPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:65313871
Cytoband
15q22.31
HGVS
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
Allele change
Missense_S209L

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 15|Leigh syndrome|6 conditions|Mitochondrial complex 1 deficiency, nuclear type 27|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.