{{Rsnum
|rsid=137854468
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FBN1
|position=48487396
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=134797
|variant=0021
|rsnum=137854468
}}{{ClinVar
|rsid=137854468
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=48779593
|CHROM=15
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050068000000000002110100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48779593C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNACC=RCV000017905.26; RCV000029725.1
|CLNDBN=Marfan syndrome, mild; Marfan's syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=134797.0021
|Disease=Marfan syndrome; Marfan's syndrome
}}{{PMID Auto
|PMID=7762551
|Title=A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
|OA=1
}}

{{PMID Auto
|PMID=8882780
|Title=Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
}}

{{PMID Auto
|PMID=9236141
|Title=A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.
}}

{{PMID Auto
|PMID=9404258
|Title=An association between arterial pulse pressure and variation in the fibrillin-1 gene.
|OA=1
}}

{{PMID Auto
|PMID=16571647
|Title=The molecular genetics of Marfan syndrome and related disorders.
|OA=1
}}

{{PMID Auto
|PMID=18423350
|Title=Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy.
}}