Variant: rs121912880 

    present in Gene: COL2A1
    present in Chromosome: 12
    Position on Chromosome: 47986353
    Alleles of this Variant: C/A;T

rs121912880 in COL2A1 gene and Multiple congenital anomalies PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

rs121912880 in COL2A1 gene and Strudwick syndrome PMID 16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.