Variant: rs121912879 

    present in Gene: COL2A1;LOC105369752
    present in Chromosome: 12
    Position on Chromosome: 47980017
    Alleles of this Variant: C/G

rs121912879 in COL2A1;LOC105369752 gene and Achondrogenesis type 2 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.

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 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."

PMID 2572591 1989 Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

PMID 15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

PMID 10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

PMID 7829510 1995 A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

PMID 7757081 1995 A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

rs121912879 in COL2A1;LOC105369752 gene and Spondyloepiphyseal dysplasia, congenita PMID 10678662 2000 Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

PMID 8423604 1993 The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

PMID 8019561 1994 A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

PMID 8325895 1993 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.

PMID 2543071 1989 Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

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 11746045 2001 Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

PMID 2339128 1990 Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.