CTC1 CST telomere replication complex component 1

Information
Symbol
CTC1
Type
protein-coding
Description
CST telomere replication complex component 1
Entrez Gene ID
80169
Genome
hg19
Position
chr17:8,128,133-8,151,374
Genome
hg38
Position
chr17:8,224,815-8,248,056
MIM
613129 OMIM
HGNC
HGNC:26169 HGNC
Ensembl
ENSG00000178971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 156
Likely pathogenic 0 64
Benign 0 141
Likely benign 0 906
Conflicting classifications of pathogenicity 0 118
not provided 2 0
Uncertain significance 0 1,506
Ranking
ClinVar
0
0
419
2,290
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AAF-132
SYNONYM AAF132
SYNONYM C17orf68
SYNONYM CRMCC
SYNONYM tmp494178
MIM 613129 OMIM
HGNC HGNC:26169 HGNC
Ensembl ENSG00000178971 Ensembl
AllianceGenome HGNC:26169
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000580299.2 hg38 chr17 8,227,826 8,248,058 20,233
ENST00000581729.2 hg38 chr17 8,227,846 8,248,058 20,213
ENST00000699849.1 hg38 chr17 8,226,889 8,248,041 21,153
ENST00000651323.1 hg38 chr17 8,224,815 8,248,056 23,242
ENST00000651323.1 hg19 chr17 8,128,133 8,151,374 23,242
ENST00000580299.2 hg19 chr17 8,131,144 8,151,376 20,233
ENST00000581729.2 hg19 chr17 8,131,164 8,151,376 20,213
ENST00000699849.1 hg19 chr17 8,130,207 8,151,359 21,153
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