ISPD gene homepage

This database is one from the Leiden Muscular Dystrophy pages
General information
Gene symbol ISPD
Gene name isoprenoid synthase domain containing
Chromosome 7
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_032690.1
Transcript reference NM_001101426.3
Exon/intron information NM_001101426.3 exon/intron table
Associated with diseases ID, MDDGA-7, MDDGC-7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Jacqueline Olender and Johan den Dunnen
Total number of public variants reported 193
Unique public DNA variants reported 107
Individuals with public variants 130
Hidden variants 5
Notes This database is one from the Leiden Muscular Dystrophy pages
Date created September 13, 2012
Date last updated September 24, 2019
Version ISPD:190924

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_001101426.3.
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 37276
Entrez Gene 729920
PubMed articles ISPD
OMIM - Gene 614631
OMIM - Diseases MDDGA-7 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A7 (MDDGA-7))
MDDGC-7 (LGMD-2U)
HGMD ISPD
GeneCards ISPD
GeneTests ISPD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000697 7 transcript variant 1 NM_001101426.3 NP_001094896.1 193


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 © 2012-2019. 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.