Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140592
rs140592
FBN1
G 0.800 GeneticVariation CLINVAR Marfan Database (third edition): new mutations and new routines for the software. 9399842

1998
dbSNP: rs140592
rs140592
FBN1
G 0.800 GeneticVariation CLINVAR Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. 10930463

2000
dbSNP: rs140592
rs140592
FBN1
G 0.800 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs140592
rs140592
FBN1
G 0.800 GeneticVariation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016
dbSNP: rs140592
rs140592
FBN1
G 0.800 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs140603
rs140603
FBN1
C 0.800 GeneticVariation CLINVAR

dbSNP: rs25403
rs25403
FBN1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs363804
rs363804
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs363815
rs363815
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs363853
rs363853
FBN1
G 0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs363853
rs363853
FBN1
G 0.800 GeneticVariation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs363853
rs363853
FBN1
G 0.800 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs363853
rs363853
FBN1
G 0.800 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs363853
rs363853
FBN1
G 0.800 GeneticVariation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs113393517
rs113393517
FBN1
G 0.710 GeneticVariation CLINVAR

dbSNP: rs113393517
rs113393517
FBN1
A 0.710 GeneticVariation CLINVAR

dbSNP: rs193922185
rs193922185
FBN1
A 0.710 GeneticVariation CLINVAR

dbSNP: rs794728334
rs794728334
FBN1
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1052480459
rs1052480459
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs1057518881
rs1057518881
FBN1
T 0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682

2013