rs1557877041
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.
|
27081569 |
2016 |
rs1057518666
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs1553193910
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs1553193913
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs1557877041
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs1557932876
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
|
11668615 |
2001 |
rs1557877041
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine.
|
10725403 |
2000 |
rs1553193910
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
rs1553193913
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
rs1557847904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
rs1553193910
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
8872475 |
1996 |
rs1553193913
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
8872475 |
1996 |
rs749663226
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs866783525
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121912943
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
rs121912943
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
|
10486316 |
1999 |
rs121912943
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
|
8872475 |
1996 |
rs121912943
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|