rs77931234
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, |