rs121912874
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
A
0.700
CausalMutation
CLINVAR
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
BEFREE
A specific missense mutation (c.823C > T, R275C ) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia , which is quite a unique situation among the COL2A1 disorders.
19764028
2009
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
UNIPROT
A specific missense mutation (c.823C > T, R275C ) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia , which is quite a unique situation among the COL2A1 disorders.
19764028
2009
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
UNIPROT
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
7757086
1995
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
BEFREE
The p.(Arg275Cys) substitution is found in all patients with COL2A1-associated Czech dysplasia .
26443184
2016
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
UNIPROT
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
8244341
1993
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
BEFREE
The R275C mutation in the COL2A1 gene causes a specific type II collagen disorde r that was recently delineated as Czech dysplasia .
17726487
2007
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
BEFREE
Czech dysplasia is caused by a specific missense mutation (R275C , c.823C > T) in the triple helical domain of the COL2A1 gene.
18553548
2008
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
0.840
GeneticVariation
UNIPROT
Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders.
18553548
2008
rs121912876
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
A
0.840
CausalMutation
CLINVAR
rs121912893
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
A
0.700
CausalMutation
CLINVAR
rs794727261
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Czech dysplasia, metatarsal type
T
0.700
CausalMutation
CLINVAR