{{Rsnum
|rsid = 4775765
|Gene = FBN1
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=15
|position=48515440
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=4775765
|allele=T
|frequency=1
|uid=1103645604979
|type=homozygous_SNP
|hugo=FBN1
|ensembl gene=ENSG00000166147
|ensembl transcript=ENST00000316623
|sift=TOLERATED
|disease=Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) (MIM:182212). SGS is one of a group of disorders characterized by typical features of the Marfan syndrome along with premature closure of the sutures of the skull, causing deformities such as oxycephaly and scaphocephaly.
}}

{{GET Evidence
|gene=FBN1
|aa_change=Cys472Tyr
|aa_change_short=C472Y
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4775765
|overall_frequency_n=128
|overall_frequency_d=128
|overall_frequency=1
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}