Variant: rs1554395471 

    present in Gene: COL1A2
    present in Chromosome: 7
    Position on Chromosome: 94405197
    Alleles of this Variant: A/C;G

rs1554395471 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

rs1554395471 in COL1A2 gene and Lobstein Disease PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.