LOVD FKTN homepage

General information
Gene name Fukutin
Gene symbol FKTN
Chromosome Location 9q31-q33
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen and Rosário dos Santos
PubMed references View all (unique) PubMed references in the FKTN database
Date of creation June 06, 2006
Last update March 29, 2013
Version FKTN130329
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008754.1
Transcript refseq ID NM_001079802.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 68
Total number of individuals with variant(s) 360
Total number of variants reported 577
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the FKTN database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the FKTN database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FKTN database
Variants with no known pathogenicity Listing of all FKTN variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.DMD.nl/fcmd_home.html
HGNC 3622
Entrez Gene 2218
OMIM - Gene 607440
OMIM - Disease #1 Fukuyama congenital muscular dystrophy (FCMD)
OMIM - Disease #2 limb-girdle muscular dystrophy, type 2M (LGMD-2M)
OMIM - Disease #3 Walker-Warburg syndrome (WWS)
OMIM - Disease #4 cardiomyopathy, dilated type 1X (CMD-1X)
GeneCards FKTN
GeneTests FKTN

Copyright & disclaimer
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