The DYSF gene homepage

General information
Gene symbol DYSF
Gene name dysferlin
Chromosome 2
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_008694.1
Transcript reference NM_001130455.1, NM_001130976.1, NM_001130977.1, NM_001130978.1, NM_001130979.1, NM_001130980.1, NM_001130981.1, NM_001130982.1, NM_001130983.1, NM_001130984.1, NM_001130985.1, NM_001130986.1, NM_001130987.1, NM_003494.3
Associated with diseases LGMD2B
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 6
Unique public DNA variants reported 6
Individuals with public variants 1
Hidden variants 0
Date created April 11, 2021
Date last updated August 01, 2021
Version DYSF:210801

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
HGNC 3097
Entrez Gene 8291
PubMed articles DYSF
OMIM - Gene 603009
OMIM - Diseases LGMD2B (Muscular Dystrophy, Limv Girdle, Type 2B)
HGMD DYSF
GeneCards DYSF
GeneTests DYSF


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000482 2 transcript variant 8 NM_003494.3 NP_003485.1 5
00000474 2 transcript variant 13 NM_001130980.1 NP_001124452.1 1
00000470 2 transcript variant 1 NM_001130987.1 NP_001124459.1 0
00000471 2 transcript variant 10 NM_001130977.1 NP_001124449.1 0
00000472 2 transcript variant 11 NM_001130978.1 NP_001124450.1 0
00000473 2 transcript variant 12 NM_001130979.1 NP_001124451.1 0
00000475 2 transcript variant 14 NM_001130981.1 NP_001124453.1 0
00000476 2 transcript variant 2 NM_001130455.1 NP_001123927.1 0
00000477 2 transcript variant 3 NM_001130986.1 NP_001124458.1 0
00000478 2 transcript variant 4 NM_001130985.1 NP_001124457.1 0
00000479 2 transcript variant 5 NM_001130984.1 NP_001124456.1 0
00000480 2 transcript variant 6 NM_001130983.1 NP_001124455.1 0
00000481 2 transcript variant 7 NM_001130982.1 NP_001124454.1 0
00000483 2 transcript variant 9 NM_001130976.1 NP_001124448.1 0


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