rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
|
15880705 |
2005 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
9852679 |
1998 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
|
9067753 |
1997 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
8782043 |
1996 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
7876225 |
1995 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
|
7607655 |
1995 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
8304336 |
1994 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
|
0.800 |
GeneticVariation |
UNIPROT |
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
|
8004099 |
1994 |
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs111033552
|
COL10A1;NT5DC1
|
Metaphyseal chondrodysplasia Schmid type
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|