rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
|
12938084 |
2003 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM.
|
11829507 |
2002 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome.
|
7896820 |
1995 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
|
8504310 |
1993 |
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|
rs137854462
|
|
Marfan Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs137854467
|
|
Marfan Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs137854467
|
|
Marfan Syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
|
|
|
rs137854468
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
|
19802897 |
2010 |
rs137854468
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
|
12938084 |
2003 |
rs137854468
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
|
12651868 |
2003 |
rs137854468
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|
7762551 |
1995 |
rs137854468
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.
|
952872 |
1976 |
rs137854478
|
|
Marfan Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
|
21784848 |
2011 |
rs137854478
|
|
Marfan Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
|
17324963 |
2007 |
rs137854478
|
|
Marfan Syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.
|
10766875 |
2000 |
rs137854478
|
|
Marfan Syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
|
|
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
|
19863550 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |