Variant (rsID / SNP)

rs200286768

rs200286768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTFMT. Location: chromosome 15, position 65,295,576. 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: 15:65295576
Cytoband: 15q22.31
HGVS: NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)
Allele change: Nonsense_R332X

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 27|Combined oxidative phosphorylation defect type 15

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.