Variant (rsID / SNP)

rs121909485

rs121909485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSFM. Location: chromosome 12, position 58,190,322. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSFMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:58190322
Cytoband: 12q14.1
HGVS: NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
Allele change: Silent

Associated conditions / phenotypes

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3|Inborn genetic diseases

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.