Variant: rs66883877 

    present in Gene: COL1A2
    present in Chromosome: 7
    Position on Chromosome: 94419499
    Alleles of this Variant: G/A;C;T

rs66883877 in COL1A2 gene and Dentinogenesis Imperfecta PMID 26788535 2016 The dentin phosphoprotein repeat region and inherited defects of dentin.

rs66883877 in COL1A2 gene and Osteogenesis imperfecta type III (disorder) PMID 8723681 1996 Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.

PMID 8444468 1993 A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 8456807 1993 Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.

PMID 8800927 1996 Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PMID 8081394 1994 A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 10408781 1999 Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7749416 1995 A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 7520724 1994 Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PMID 7720740 1995 Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

rs66883877 in COL1A2 gene and Osteogenesis imperfecta type IV (disorder) PMID 2897363 1988 Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7693712 1993 Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.

PMID 2064612 1991 Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.

PMID 8094076 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

PMID 8800927 1996 Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PMID 1642148 1992 Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.

PMID 2052622 1991 Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 8401517 1993 Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.