FKRP gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol FKRP
Gene name fukutin related protein
Chromosome 19
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_008898.2
Transcript reference NM_024301.4
Exon/intron information NM_024301.4 exon/intron table
Associated with diseases ID, LGMD-2, LGMD-2I, MDDGA-5, MDDGB-6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Rosário dos Santos
Total number of public variants reported 936
Unique public DNA variants reported 230
Individuals with public variants 738
Hidden variants 254
Notes This database is one of the gene variant databases from the:
Date created August 20, 2000
Date last updated October 11, 2019
Version FKRP:191011

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_024301.4.
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 https://www.dmd.nl/fkrp_home.html
External URL Orphanet
HGNC 17997
Entrez Gene 79147
PubMed articles FKRP
OMIM - Gene 606596
OMIM - Diseases LGMD-2I (MDDGC-5)
MDDGA-5 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A5 (MDDGA-5))
MDDGB-6 (dystrophy, muscular, dystroglycanopathy (congenital with or without mental retardation), type B6 (MDDGB-6))
HGMD FKRP
GeneCards FKRP
GeneTests FKRP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000181 19 fukutin related protein, transcript variant 1 NM_024301.4 NP_077277.1 936


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 © 2000-2019. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.