View gene FLNC

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol FLNC
Gene name filamin C, gamma
Chromosome 7
Chromosomal band q32-q35
Imprinted Not imprinted
Genomic reference NG_011807.1
Transcript reference NM_001458.4
Exon/intron information NM_001458.4
Associated with diseases MFM-5, MPD-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 9
Individuals with public variants 43
Hidden variants 0
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created March 01, 2010
Date last updated October 31, 2015
Version FLNC:151031

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/FLNC
HGNC 3756
Entrez Gene 2318
PubMed articles FLNC
OMIM - Gene 102565
OMIM - Diseases MFM-5 (myopathy, myofibrillar, type 5 (MFM-5, filamin C related))
MPD-4 (myopathy, distal, type 4 (MPD-4))
HGMD FLNC
GeneCards FLNC
GeneTests FLNC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024072 7 transcript variant 1 NM_001458.4 NP_001449.3 14


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2016. 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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