Variant: rs397514452

present in Gene: ADK present in Chromosome: 10 Position on Chromosome: 74670258 Alleles of this Variant: C/A;T

rs397514452 in ADK gene and HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY PMID 21963049 2011 Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.