Variant: rs397514453

present in Gene: LOC102723439;ADK present in Chromosome: 10 Position on Chromosome: 74525404 Alleles of this Variant: A/C

rs397514453 in LOC102723439;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.