The DYSF gene homepage
This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
| General information |
| Gene symbol |
DYSF |
| Gene name |
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) |
| Chromosome |
2 |
| Chromosomal band |
p13.3 |
| Imprinted |
Unknown |
| Genomic reference |
NG_008694.1 |
| Transcript reference |
NM_003494.3 |
| Exon/intron information |
NM_003494.3 exon/intron table |
| Associated with diseases |
DMAT, LGMD2, LGMDR2, MMD, MMD1 |
| Citation reference(s) |
- |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
Johan den Dunnen |
| Total number of public variants reported |
4431 |
| Unique public DNA variants reported |
1288 |
| Individuals with public variants |
3532 |
| Hidden variants |
210 |
| Notes |
This database is one of the gene variant databases from the:
Request from the Jain Foundation; LGMD2B/MM patient registry. |
| Date created |
September 28, 1998 |
| Date last updated |
April 19, 2024 |
| Version |
DYSF:240419 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 1998-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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. |
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