rs121434280
A SNP in the ACADM gene on chromosome 1. Its most notable genotype is C;C: Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Gene
- ACADM
- Location
- Chr 175,732,724 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadMedium-Chain Acyl-CoA Dehydrogenase Deficiency
- C;TBadCarrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ACADM SNPs
Notes
From SNPedia
Notes
aka c.199T>C, p.Tyr67His), Y67H (and in older literature, Y42H or Tyr42His) According to a paper cited in OMIM, the Y42H mutation is relatively mild as ACADM mutations go, and may be a temperature-sensitive mutation, which its most deleterious effects only at increased temperatures.
Source and license
Adapted from rs121434280 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.