rs77931234
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
| (C;T) | 3 | Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 75761161 |
| Gene | ACADM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77931234 |
| dbSNP (classic) | rs77931234 |
| ClinGen | rs77931234 |
| ebi | rs77931234 |
| HLI | rs77931234 |
| Exac | rs77931234 |
| Gnomad | rs77931234 |
| Varsome | rs77931234 |
| LitVar | rs77931234 |
| Map | rs77931234 |
| PheGenI | rs77931234 |
| Biobank | rs77931234 |
| 1000 genomes | rs77931234 |
| hgdp | rs77931234 |
| ensembl | rs77931234 |
| geneview | rs77931234 |
| scholar | rs77931234 |
| rs77931234 | |
| pharmgkb | rs77931234 |
| gwascentral | rs77931234 |
| openSNP | rs77931234 |
| 23andMe | rs77931234 |
| SNPshot | rs77931234 |
| SNPdbe | rs77931234 |
| MSV3d | rs77931234 |
| GWAS Ctlg | rs77931234 |
| GMAF | 0.002296 |
| Max Magnitude | 5 |
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
| ClinVar | |
|---|---|
| Risk | Rs77931234(C;C) rs77931234(G;G) |
| Alt | Rs77931234(C;C) rs77931234(G;G) |
| Reference | Rs77931234(T;T) |
| Significance | Pathogenic |
| Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Variation | info |
| Gene | ACADM |
| CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.76226846A>C; NC_000001.10:g.76226846A>G |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000211523.1, RCV000003769.8, RCV000077895.5, |
