The 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 exon/intron table
Associated with diseases CIIPX, CVD-1, FGS-2, FMD1, 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 785
Unique public DNA variants reported 473
Individuals with public variants 404
Hidden variants 46
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 September 17, 2021
Version FLNA: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_001110556.1.
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
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))
FMD1 (dysplasia, frontometaphyseal (FMD1))
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
Orphanet FLNA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000483 X transcript variant 2 NM_001110556.1 NP_001104026.1 785


Copyright & disclaimer
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