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Variant (rsID / SNP)

rs587777688

TSFM

rs587777688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSFM. Location: chromosome 12, position 58,190,332. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSFMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:58190332
Cytoband
12q14.1
HGVS
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)
Allele change
Silent

Associated conditions / phenotypes

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Public references

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