Variant: rs121912872 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47994440
    Alleles of this Variant: C/T

rs121912872 in COL2A1 gene and Stickler Syndrome, Type I, Nonsyndromic Ocular PMID 17721977 2008 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

PMID 8317498 1993 Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

PMID 16752401 2006 High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.