{{Rsnum
|rsid=137854466
|Chromosome=15
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=FBN1
|position=48411280
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=134797
|variant=0017
|rsnum=137854466
}}{{ClinVar
|rsid=137854466
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=48703477
|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.48703477G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=134797.0017
|CLNSIG=255
|CLNCUI=C0024796
|CLNDBN=Marfan's syndrome
|Disease=Marfan's syndrome
|CLNACC=RCV000017901.27
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
}}{{PMID Auto
|PMID=8541880
|Title=Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.
}}

{{PMID Auto
|PMID=8791520
|Title=Fibrillln mutations in Marfan syndrome and related phenotypes.
}}

{{PMID Auto
|PMID=9817919
|Title=Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
}}

{{PMID Auto
|PMID=10756346
|Title=Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
}}

{{PMID Auto
|PMID=11143906
|Title=Marfan syndrome and fibrillin disorders.
}}

{{PMID Auto
|PMID=11826022
|Title=Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|OA=1
}}