|
rs1057520131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A C596G mutation in FBN1 was identified in a Chinese family with MFS.
|
25729264 |
2015 |
|
rs1064793118
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu).
|
19802897 |
2010 |
|
rs1085307528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu).
|
19802897 |
2010 |
|
rs137854484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS.
|
17366579 |
2007 |
|
rs8033037
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0.0061) with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals.
|
17024364 |
2007 |
|
rs747713929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype.
|
10694921 |
1998 |
|
rs137854485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
|
30485715 |
2019 |
|
rs137854485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p.Arg485Cys) and MFS.
|
17568394 |
2007 |
|
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings.
|
26875674 |
2016 |
|
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Primary protrusio acetabuli may represent a hitherto unidentified metabolic defect, and a possible candidate for such genetic influence is the R2726W variant of the fibrillin 1 (FBN1) gene, which segregates with isolated skeletal features of individuals with Marfan syndrome.
|
19396033 |
2009 |
|
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature.
|
15598221 |
2004 |
|
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.
|
11748851 |
2001 |
|
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.
|
11524736 |
2001 |
|
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
|
9150726 |
1997 |
|
rs1555404803
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
|
rs1566896114
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
|
rs1566913670
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
|
rs1555399165
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1555400274
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566891645
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566895225
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566896114
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566898399
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566904011
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs1566906537
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |