rs587779431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
rs587779431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
|
24922459 |
2014 |
rs587779431
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587779431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
|
25758994 |
2015 |
rs587779431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs587779431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
rs587779431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
|
7749417 |
1995 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
|
1352273 |
1992 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
|
8884076 |
1996 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
|
7912131 |
1994 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
|
2492273 |
1989 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
|
8411057 |
1993 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
|
10923041 |
2000 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
|
8990011 |
1997 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
|
9036918 |
1997 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
|
8019562 |
1994 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
|
8664902 |
1996 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
|
1357232 |
1992 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
|
10706896 |
2000 |
rs587779431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
|
12786757 |
2003 |