|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
|
7749417 |
1995 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
|
9452103 |
1998 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
|
12786757 |
2003 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
|
10706896 |
2000 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
|
2243125 |
1990 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |
|
rs121912917
|
|
|
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 |