Variant: rs121912889 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47974234
    Alleles of this Variant: T/C

rs121912889 in COL2A1 gene and Platyspondylic Lethal Skeletal Dysplasia, Torrance Type PMID 14729840 2004 Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

PMID 15643621 2005 Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

PMID 10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.