{{Rsnum
|rsid=61746008
|Gene=FBN1
|Chromosome=15
|position=48412619
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=FBN1
}}{{omim
|id=134797
|rsnum=61746008
|variant=0023
}}{{ClinVar
|rsid=61746008
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=48704816
|CHROM=15
|GMAF=0.0005
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050068000000040116110100
|GENEINFO=FBN1:2200
|GENE_NAME=FBN1
|GENE_ID=2200
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.48704816G>A
|CLNORIGIN=1
|Tags=PM;PMC;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNACC=RCV000017908.1; RCV000029787.1
|CLNDBN=Reclassified - variant of unknown significance; Marfan's syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1335:C0024796:154700:558:19346006
|CLNSIG=4
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=134797.0023
|COMMON=0
|Disease=Reclassified - variant of unknown significance; Marfan's syndrome
}}{{PMID Auto
|PMID=17024
|Title=Non-cholinergic and non-adrenergic mechanisms in the contraction and relaxation of the chicken rectum.
}}

{{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=12915484
|Title=Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
}}

{{PMID Auto
|PMID=16222657
|Title=Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
}}

{{PMID Auto
|PMID=18435798
|Title=FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
}}

{{PMID Auto
|PMID=19059503
|Title=Compound-heterozygous Marfan syndrome.
}}