The CTC1 gene homepage

General information
Gene symbol CTC1
Gene name CTS telomere maintenance complex component 1
Chromosome 17
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_032148.1
Transcript reference NM_025099.5
Exon/intron information NM_025099.5 exon/intron table
Associated with diseases CRMCC, CTC1-related, DKC
Citation reference(s) PubMed: Anderson 2012, PubMed: Polvi 2012, PubMed: Keller 2012, PubMed: Romaniello 2013, PubMed: Walne 2013, PubMed: Chen 2013, PubMed: Yannuzzi 2014, PubMed: Bisserbe 2015
Refseq URL Genomic reference sequence
Curators (1) Anne Polvi
Total number of public variants reported 156
Unique public DNA variants reported 97
Individuals with public variants 75
Hidden variants 7
Download all this gene's data Download all data
Date created March 08, 2013
Date last updated September 17, 2021
Version CTC1:210917

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_025099.5.
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 26169
Entrez Gene 80169
PubMed articles CTC1
OMIM - Gene 613129
OMIM - Diseases CRMCC (microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome))
HGMD CTC1
GeneCards CTC1
GeneTests CTC1
Orphanet CTC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001799 17 CTS telomere maintenance complex component 1 NM_025099.5 NP_079375.3 156


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2013-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.