FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Marfan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885 2010
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982 2010
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
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
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935 2007
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557 2005
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
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
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657 2005
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917 2004
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297 2004
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084 2003
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992 2002
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
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
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022 2002
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157 2001
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation BEFREE In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair. 10942427 2000
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041 1999