Variant: rs111033545 

    present in Gene: COL10A1;NT5DC1
    present in Chromosome: 6
    Position on Chromosome: 116120275
    Alleles of this Variant: A/G

rs111033545 in COL10A1;NT5DC1 gene and Metaphyseal chondrodysplasia Schmid type PMID 15880705 2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

PMID 7607655 1995 Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.

PMID 9852679 1998 Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

PMID 8304336 1994 Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

PMID 8782043 1996 Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

PMID 9067753 1997 Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

PMID 7876225 1995 Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.

PMID 8004099 1994 Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.