The CTDP1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol CTDP1
Gene name CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Chromosome 18
Chromosomal band q23
Imprinted Unknown
Genomic reference LRG_236
Transcript reference NM_004715.4
Exon/intron information NM_004715.4 exon/intron table
Associated with diseases CCFDN, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 91
Unique public DNA variants reported 78
Individuals with public variants 4
Hidden variants 8
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.ariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated September 15, 2020
Version CTDP1:200915

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_004715.4.
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 http://www.LOVD.nl/CTDP1
HGNC 2498
Entrez Gene 9150
PubMed articles CTDP1
OMIM - Gene 604927
OMIM - Diseases CCFDN (cataracts, congenital, facial dysmorphism, and neuropathy (CCFDN))
HGMD CTDP1
GeneCards CTDP1
GeneTests CTDP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005837 18 transcript variant 1 NM_004715.4 NP_004706.3 91


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 © 2012-2020. 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.