rs77931234
A SNP in the ACADM gene on chromosome 1. Its most notable genotype is G;G: Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Gene
- ACADM
- Location
- Chr 175,761,161 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadMedium-Chain Acyl-CoA Dehydrogenase Deficiency
- A;GBadCarrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- A;AGoodcommon in clinvar
SNPedia records rs77931234 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ACADM SNPs
Notes
From SNPedia
Show notes, about 120 words
rs77931234, also known as c.985A>G, p.Lys329Glu and K329E, and due to numbering differences also c.997A>G, p.Lys333Glu, and K304E, is an infrequent mutation in the ACADM gene on chromosome 1. Homozygote minor or compound heterozygote mutation involving this mutation leads to the inborn error of metabolism medium-chain acyl-coenzyme A dehydrogenase deficiency, aka MCAD deficiency. This particular mutation (rs7791234C) is the common MCADD mutation among Northern European Caucasians, being present in about 80% of Caucasian individuals who presented clinically with MCADD and in 60% of the population identified by screening. See also OMIM 607008.0001 FTDNA & MyHeritage name: VG01S1077 23andMe name: i5012759
G;G
see text and links via main rs-page
Source and license
Adapted from rs77931234 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.