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rs77931234

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome1
Position75761161
GeneACADM
is asnp
is mentioned by
dbSNPrs77931234
ebirs77931234
HLIrs77931234
Exacrs77931234
Varsomers77931234
Maprs77931234
PheGenIrs77931234
hapmaprs77931234
1000 genomesrs77931234
hgdprs77931234
ensemblrs77931234
gopubmedrs77931234
geneviewrs77931234
scholarrs77931234
googlers77931234
pharmgkbrs77931234
gwascentralrs77931234
openSNPrs77931234
23andMers77931234
23andMe allrs77931234
SNP Nexus

SNPshotrs77931234
SNPdbers77931234
MSV3drs77931234
GWAS Ctlgrs77931234
GMAF0.002296
Max Magnitude5

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

OMIM607008
Desc
Variant0001
Relatedalso
ClinVar
Risk rs77931234(C,G;C,G)
Alt rs77931234(C,G;C,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, RCV000003769.6, RCV000077895.5,