Variant: rs202143236 

    present in Gene: PFKM;MIR6505
    present in Chromosome: 12
    Position on Chromosome: 48131394
    Alleles of this Variant: G/A

rs202143236 in PFKM;MIR6505 gene and Glycogen Storage Disease Type VII PMID 8444874 1993 A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).

PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

rs202143236 in PFKM;MIR6505 gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.