Rs121434369

rs121434369, also known as R402W or Arg402Trp, is a mutation in the glutaryl-CoA dehydrogenase GCDH gene on chromosome 19.

The rare rs121434369(T) allele is reported to be the most common GCDH mutation in Caucasians. Since glutaric acidemia I disease is caused by homozygous or compound heterozygous mutation in the GCDH gene, this SNP is predicted to be the most common mutation associated with glutaric acidemia I.