Variant: rs121912946 

    present in Gene: COL11A2
    present in Chromosome: 6
    Position on Chromosome: 33166736
    Alleles of this Variant: C/T

rs121912946 in COL11A2 gene and Pierre Robin syndrome with fetal chondrodysplasia PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.