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 158
Unique public DNA variants reported 98
Individuals with public variants 76
Hidden variants 7
Download all this gene's data Download all data
Date created March 08, 2013
Date last updated October 29, 2021
Version CTC1:211029

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))
GeneCards CTC1
GeneTests CTC1
Orphanet CTC1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001799 17 CTS telomere maintenance complex component 1 NM_025099.5 NP_079375.3 158

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