Variant: rs104894101 

    present in Gene: AK1
    present in Chromosome: 9
    Position on Chromosome: 127868455
    Alleles of this Variant: G/A

rs104894101 in AK1 gene and Adenylate Kinase Deficiency, Hemolytic Anemia Due To PMID 2542324 1989 Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.

PMID 9432020 1997 Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.

PMID 12649162 2003 Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia.