Variant: rs1554396271 

    present in Gene: COL1A2
    present in Chromosome: 7
    Position on Chromosome: 94410899
    Alleles of this Variant: G/A;T

rs1554396271 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

rs1554396271 in COL1A2 gene and Lobstein Disease PMID 9016532 1997 The human type I collagen mutation database.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 19344236 2009 Collagen structure and stability.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

rs1554396271 in COL1A2 gene and Multiple congenital anomalies PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.

PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.

PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.

PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.

PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.