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General information
Gene symbol FBN1
Gene name fibrillin 1
Chromosome 15
Chromosomal band q21.1
Imprinted Unknown
Genomic reference LRG_778
Transcript reference NM_000138.4
Associated with diseases MFS1
Citation reference(s) -
Curators (3) Florian Bayersdorfer, Elisabeth Ohmann and Sabine Heber
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Date created February 19, 2021
Date last updated February 07, 2022
Version FBN1:220207

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Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3603
Entrez Gene 2200
PubMed articles FBN1
OMIM - Gene 134797
OMIM - Diseases MFS1 (MARFAN SYNDROME, TYPE I)
HGMD FBN1
GeneCards FBN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000059 15 fibrillin 1 NM_000138.4 NP_000129.3 2


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