rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
|
9452103 |
1998 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
|
2243125 |
1990 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
|
7749417 |
1995 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
|
8514866 |
1993 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.
|
12694234 |
2003 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
|
1496983 |
1992 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
|
2808425 |
1989 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
|
12786757 |
2003 |
rs121912913
|
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
|
10706896 |
2000 |