rs201754030

A SNP in the TSFM gene on chromosome 12. Its most notable genotype is T;T: Combined oxidative phosphorylation deficiency-3 likely

Gene
TSFM
Location
Chr 1257,796,461 (GRCh38)
Highest magnitude
8.1Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadCarrier of a combined oxidative phosphorylation deficiency-3 mutationImportant · 3.0
  3. T;TMost notableBadCombined oxidative phosphorylation deficiency-3 likelyVery important · 8.1

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs201754030, also known as c.856C>T, p.Gln286Ter, Gln307* and Q307X, represents a rare mutation in the TSFM gene on chromosome 12. Inherited as an autosomal recessive, the minor allele is considered pathogenic (in ClinVar and OMIM) for combined oxidative phosphorylation deficiency-3, a serious congenital disorder associated with a variety of myopathic and cardiopathic abnormalities.

C;T

Unaffected in absence of another pathogenic TFSM gene mutation

T;T

see discussion and links at rs201754030

Source and license

Adapted from rs201754030 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.