Variant: rs1553234339 

    present in Gene: COL11A1
    present in Chromosome: 1
    Position on Chromosome: 103012412
    Alleles of this Variant: C/T

rs1553234339 in COL11A1 gene and Dysmorphic features PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

rs1553234339 in COL11A1 gene and Multiple congenital anomalies PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.