{{Rsnum
|rsid=154001
|Gene=FBN2
|Chromosome=5
|position=128349443
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.27
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=FBN2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 7.1 | 47.8 | 45.1
| HCB | 1.5 | 12.4 | 86.1
| JPT | 0.0 | 20.5 | 79.5
| YRI | 18.4 | 46.9 | 34.7
| ASW | 17.5 | 47.4 | 35.1
| CHB | 1.5 | 12.4 | 86.1
| CHD | 0.0 | 12.0 | 88.0
| GIH | 8.9 | 35.6 | 55.4
| LWK | 14.7 | 43.1 | 42.2
| MEX | 8.6 | 39.7 | 51.7
| MKK | 13.5 | 52.9 | 33.5
| TSI | 10.8 | 43.1 | 46.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=154001
|allele=T
|frequency=0.308
|uid=1103654220110
|type=heterozygous_SNP
|hugo=FBN2
|ensembl gene=ENSG00000138829
|ensembl transcript=ENST00000262464
|sift=TOLERATED
|disease=Defects in FBN2 are the cause of congenital contractural arachnodactyly (CCA) (MIM:121050); also known as Beals syndrome. CCA is phenotypically similar to Marfan syndrome, but does not effect the aorta and the eyes.
}}

{{omim
|id=612570
|rsnum=154001
|variant=0003
}}

{{ClinVar
|rsid=154001
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=127685135
|CHROM=5
|GMAF=0.2697
|dbSNPBuildID=79
|SSR=0
|SAO=1
|VP=0x050360000a0115051f110101
|GENEINFO=FBN2:2201
|GENE_NAME=FBN2
|GENE_ID=2201
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.127685135C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612570.0003
|CLNSIG=1
|CLNCUI=C0220668
|CLNDBN=Congenital contractural arachnodactyly
|Disease=Congenital contractural arachnodactyly
|CLNACC=SCV000020699.1
|Tags=PM;S3D;SLO;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.27; 0.73
|COMMON=1
}}

{{GET Evidence
|gene=FBN2
|aa_change=Val965Ile
|aa_change_short=V965I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs154001
|overall_frequency_n=7151
|overall_frequency_d=10758
|overall_frequency=0.664715
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=84
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}