Variant: rs137853248 

    present in Gene: HSPG2
    present in Chromosome: 1
    Position on Chromosome: 21864874
    Alleles of this Variant: C/T

rs137853248 in HSPG2 gene and Schwartz-Jampel Syndrome, Type 1 PMID 11101850 2000 Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).