|
rs1553507867
|
COL3A1;MIR3606
|
Aneurysm
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057518075
|
COL3A1;MIR3606
|
Aortic Aneurysm, Abdominal
|
|
0.010 |
GeneticVariation |
BEFREE |
In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS.
|
26017485 |
2015 |
|
rs587779692
|
COL3A1;MIR3606
|
Colorectal Carcinoma
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
Ehlers-Danlos Syndrome, Type IV
|
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
Ehlers-Danlos Syndrome, Type IV
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912928
|
COL3A1;MIR3606
|
Ehlers-Danlos Syndrome, Type IV
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |
|
rs121912928
|
COL3A1;MIR3606
|
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 |