CASQ1 gene homepage

General information
Gene symbol CASQ1
Gene name calsequestrin 1 (fast-twitch, skeletal muscle)
Chromosome 1
Chromosomal band q21
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_001231.4
Exon/intron information NM_001231.4 exon/intron table
Associated with diseases VMCQA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 7
Individuals with public variants 47
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 06, 2017
Version CASQ1:171206

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_001231.4.
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.LOVD.nl/CASQ1
HGNC 1512
Entrez Gene 844
PubMed articles CASQ1
OMIM - Gene 114250
OMIM - Diseases VMCQA (myopathy, vacuolar, with CASQ1 aggregates (VMCQA))
HGMD CASQ1
GeneCards CASQ1
GeneTests CASQ1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004391 1 calsequestrin 1 (fast-twitch, skeletal muscle) NM_001231.4 NP_001222.3 17


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