Variant: rs137853249

present in Gene: HK1 present in Chromosome: 10 Position on Chromosome: 69384348 Alleles of this Variant: T/C

rs137853249 in HK1 gene and HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID 12393545 2003 HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.

PMID 7655856 1995 Hexokinase mutations that produce nonspherocytic hemolytic anemia.