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
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
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
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
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
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
A
0.840
CausalMutation
CLINVAR
rs121912891
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Legg-Calve-Perthes Disease
0.820
GeneticVariation
BEFREE
A new type II collagenopathy, caused by the p.Gly1170Ser mutation of COL2A1, which presents as premature hip osteoarthritis (OA), avascular necrosis of the femoral head (ANFH) or Legg-Calvé-Perthes (LCP ) disease, was recently found in several families with an inherited disease of the hip joint.
20204389
2010
rs121912891
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Legg-Calve-Perthes Disease
0.820
GeneticVariation
UNIPROT
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.
17394019
2007
rs121912891
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Legg-Calve-Perthes Disease
0.820
GeneticVariation
BEFREE
We have located a missense mutation (p.G1170S ) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation.
17394019
2007
rs121912891
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Legg-Calve-Perthes Disease
T
0.820
CausalMutation
CLINVAR
rs869312907
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
0.810
GeneticVariation
BEFREE
We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type .
26183434
2015
rs869312907
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
T
0.810
CausalMutation
CLINVAR
rs869312907
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
0.810
GeneticVariation
UNIPROT
rs121912891
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.800
GeneticVariation
UNIPROT
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
21671384
2011
rs387906558
COL2A1;LOC105369752
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.800
GeneticVariation
UNIPROT
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
21671384
2011
rs121912884
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Stickler syndrome, type 1
0.800
GeneticVariation
UNIPROT
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
20513134
2010
rs121912872
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800
GeneticVariation
UNIPROT
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
17721977
2008
rs121912898
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800
GeneticVariation
UNIPROT
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.
17721977
2008
rs121912878
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Achondrogenesis type 2
0.800
GeneticVariation
UNIPROT
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
17994563
2007
rs121912879
COL2A1;LOC105369752
Achondrogenesis type 2
0.800
GeneticVariation
UNIPROT
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
17994563
2007
rs121912888
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Achondrogenesis type 2
0.800
GeneticVariation
UNIPROT
"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."
17994563
2007
rs121912872
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Stickler Syndrome, Type I, Nonsyndromic Ocular
0.800
GeneticVariation
UNIPROT
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
16752401
2006