View FLNA gene homepage

General information
Gene symbol FLNA
Gene name filamin A, alpha
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_011506.1
Transcript reference NM_001110556.1
Exon/intron information NM_001110556.1
Associated with diseases CIIPX, CVD-1, FGS-2, FMD, ID, MNS, OPD-1, OPD-2, PVNH-1, PVNH-4, TOD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 262
Unique public DNA variants reported 108
Individuals with public variants 329
Hidden variants 1
Notes When using this database please refer to Sun et al. (2010), Terminal Osseous Dysplasia is caused by a single recurrent mutation in the FLNA gene. Am.J.Hum.Genet. 87: 146-153.

Establishment of this gene variant database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated May 19, 2016
Version FLNA:160519

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/FLNA
External URL Orphanet
HGNC 3754
OMIM - Gene 300017
OMIM - Diseases CIIPX (pseudoobstruction, intestinal, neuronal, chronic idiopathic, X-linked (CIIPX))
CVD-1 (XMVD)
FGS-2 (FG syndrome, type 2 (FGS-2))
FMD (dysplasia, frontometaphyseal (FMD))
MNS (Melnick-Needles syndrome (MNS))
OPD-1 (otopalatodigital syndrome, type I (OPD-1))
OPD-2 (otopalatodigital syndrome, type II (OPD-2))
PVNH-1 (heterotopia, periventricular, type 1 (PVNH-1))
PVNH-4 (heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4))
TOD (terminal osseous dysplasia (TOD))
HGMD FLNA
GeneCards FLNA
GeneTests FLNA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000483 X transcript variant 2 NM_001110556.1 NP_001104026.1 262


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