{{Rsnum
|rsid=387906624
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FBN1
|position=48463124
|Gene_s=FBN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=15
|CLNACC=RCV000022546.22; RCV000022547.26
|CLNALLE=1
|CLNDBN=Geleophysic dysplasia 2; Acromicric dysplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK11168:C3280054:614185:2623; CN074238:102370:969:254090007
|CLNHGVS=NC_000015.9:g.48755321C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=134797.0057
|Disease=Geleophysic dysplasia 2; Acromicric dysplasia
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=48755321
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906624
|GENEINFO=FBN1:2200
|GENE_ID=2200
|GENE_NAME=FBN1
}}