Variant: rs111033544 

    present in Gene: NT5DC1;COL10A1
    present in Chromosome: 6
    Position on Chromosome: 116120324
    Alleles of this Variant: A/C

rs111033544 in NT5DC1;COL10A1 gene and Metaphyseal chondrodysplasia Schmid type 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 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 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 15880705 2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

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

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