Variant: rs121912876 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47994041
    Alleles of this Variant: G/A

rs121912876 in COL2A1 gene and Czech dysplasia, metatarsal type PMID 8244341 1993 Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

PMID 18553548 2008 Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders.

PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 19764028 2009 A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders.