The FGD1 gene homepage

General information
Gene symbol FGD1
Gene name FYVE, RhoGEF and PH domain containing 1
Chromosome X
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_008054.1
Transcript reference NM_004463.2
Exon/intron information NM_004463.2 exon/intron table
Associated with diseases AAS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 120
Unique public DNA variants reported 98
Individuals with public variants 53
Hidden variants 14
Download all this gene's data Download all data
Notes We gratefully acknowledge the support of Johan den Dunnen in establishing this databases and curating it till 2014.

Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 06, 2009
Date last updated September 17, 2021
Version FGD1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004463.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
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
Homepage URL http://www.LOVD.nl/FGD1
HGNC 3663
Entrez Gene 2245
PubMed articles FGD1
OMIM - Gene 300546
OMIM - Diseases AAS (MRX16)
HGMD FGD1
GeneCards FGD1
GeneTests FGD1
Orphanet FGD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001217 X FYVE, RhoGEF and PH domain containing 1 NM_004463.2 NP_004454.2 120


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 © 2009-2021. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.