{{Rsnum
|rsid=111671429
|Gene=FBN1
|Chromosome=15
|position=48596311
|Orientation=minus
|GMAF=0.0004591
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|rsid=111671429
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=48888508
|CHROM=15
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000040016100100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000015.9:g.48888508G>A; NC_000015.9:g.48888508G>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNCUI=
|CLNDBN=Marfan's syndrome; AllHighlyPenetrant
|Disease=Marfan's syndrome; AllHighlyPenetrant
|CLNACC=
RCV000029748.1; RCV000035220.1; RCV000029747.1
|Tags=RV;PM;PMC;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9995; 0.0004591; .
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006; CN169374
|COMMON=0
}}{{PMID Auto
|PMID=14695540
|Title=Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
}}

{{PMID Auto
|PMID=16342915
|Title=Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.
}}

{{PMID Auto
|PMID=10647894
|Title=Molecular analysis of eight mutations in FBN1.
}}

{{PMID Auto
|PMID=12161601
|Title=Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
|OA=1
}}