The NR2F1 gene homepage
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
||nuclear receptor subfamily 2, group F, member 1|
||NM_005654.4 exon/intron table|
|Associated with diseases
||BBSOAS, neuropathy, optic|
||Journal: Billiet 2021|
||Genomic reference sequence|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
|Download all this gene's data
||Download all data|
||Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1; MIM# 132890) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; MIM# 615722), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability.|
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
||May 03, 2013|
|Date last updated
||November 27, 2023|
|Copyright & disclaimer|
|The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.|
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