{{Rsnum
|rsid=137854462
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=FBN1
|position=48510115
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=134797
|variant=0010
|rsnum=137854462
}}{{ClinVar
|rsid=137854462
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=48802312
|CHROM=15
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48802312T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=134797.0010
|CLNSIG=5
|CLNCUI=C0024796
|CLNDBN=Marfan's syndrome
|Disease=Marfan's syndrome
|CLNACC=RCV000017894.22
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
}}{{PMID Auto
|PMID=118807
|Title=[Paroxysmal paresis associated with brain stem symptomatology - a new clinical entity?].
}}

{{PMID Auto
|PMID=8406497
|Title=Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
}}

{{PMID Auto
|PMID=10766875
|Title=Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.
}}

{{PMID Auto
|PMID=11068200
|Title=Fibrillin: from domain structure to supramolecular assembly.
}}

{{PMID Auto
|PMID=11706995
|Title=The molecular pathogenesis of the Marfan syndrome.
}}

{{PMID Auto
|PMID=15161917
|Title=Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
}}