{{Rsnum
|rsid=193922204
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FBN1
|position=48468542
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922204
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48760739
|CHROM=15
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48760739C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Marfan's syndrome
|Disease=Marfan's syndrome
|Tags=RV;PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029737.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
|GENEINFO=FBN1:2200
|GENE_ID=2200
|GENE_NAME=FBN1
}}{{PMID Auto
|PMID=11700157
|Title=Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
}}

{{PMID Auto
|PMID=15241795
|Title=Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
}}