Variant (rsID / SNP)

rs138911653

rs138911653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSFM. Location: chromosome 12, position 58,190,202. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TSFMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:58190202
Cytoband: 12q14.1
HGVS: NM_005726.6(TSFM):c.814G>C (p.Asp272His)
Allele change: Silent

Associated conditions / phenotypes

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

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.