IMPDH1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol IMPDH1
Gene name IMP (inosine 5'-monophosphate) dehydrogenase 1
Chromosome 7
Chromosomal band q31.3-q32
Imprinted Unknown
Genomic reference NG_009194.1
Transcript reference NM_000883.3
Exon/intron information NM_000883.3 exon/intron table
Associated with diseases LCA-11, RP-10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 27
Unique public DNA variants reported 23
Individuals with public variants 5
Hidden variants 17
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created February 13, 2012
Date last updated December 05, 2018
Version IMPDH1:181205

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_000883.3.
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
Homepage URL http://www.LOVD.nl/IMPDH1
External URL Orphanet
HGNC 6052
Entrez Gene 3614
PubMed articles IMPDH1
OMIM - Gene 146690
OMIM - Diseases LCA-11 (Leber congenital amaurosis, type 11 (LCA-11))
RP-10 (retinitis pigmentosa, type 10 (RP-10))
HGMD IMPDH1
GeneCards IMPDH1
GeneTests IMPDH1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000238 7 transcript variant 1 NM_000883.3 NP_000874.2 27


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.