{{Rsnum
|rsid = 28939370
|Gene = FBLN5
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|Chromosome=14
|position=91887253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FBLN5
}}{{omim
|desc=CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
|id=604580
|rsnum=28939370
|variant=0001
}}{{ClinVar
|rsid=28939370
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=92353597
|CHROM=14
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=FBLN5:10516
|GENE_NAME=FBLN5
|GENE_ID=10516
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.92353597A>G
|CLNORIGIN=0
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000005809.1
|CLNDBN=Autosomal recessive cutis laxa type IA
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK5201:NBK54467:CN033664:219100:90349:59451000
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK5201; 604580.0001
|Disease=Autosomal recessive cutis laxa type IA
}}{{PMID Auto
|PMID=12189163
|Title=Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
}}