{{Rsnum
|rsid=193922224
|Chromosome=15
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=FBN1
|position=48537698
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922224
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=48829895
|CHROM=15
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48829895A>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Marfan's syndrome
|Disease=Marfan's syndrome
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000029763.1
|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=7977366
|Title=A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
|OA=1
}}

{{PMID Auto
|PMID=8136837
|Title=Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
}}

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

{{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
}}

{{PMID Auto
|PMID=17568394
|Title=Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
}}