present in Gene: COL2A1
present in Chromosome: 12
Position on Chromosome: 47978389
Alleles of this Variant: C/T
rs121912878 in
COL2A1 gene and
Achondrogenesis type 2
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 10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
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 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
PMID 15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
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.
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 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.