C1orf54 chromosome 1 open reading frame 54

Information
Symbol
C1orf54
Type
protein-coding
Description
chromosome 1 open reading frame 54
Entrez Gene ID
79630
Genome
hg19
Position
chr1:150,240,600-150,253,327
Genome
hg38
Position
chr1:150,268,200-150,280,916
HGNC
HGNC:26258 HGNC
Ensembl
ENSG00000118292 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 5 0
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
0
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
HGNC HGNC:26258 HGNC
Ensembl ENSG00000118292 Ensembl
AllianceGenome HGNC:26258
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369098.3 hg38 chr1 150,272,780 150,280,914 8,135
ENST00000369099.8 hg38 chr1 150,272,790 150,280,916 8,127
ENST00000369102.5 hg38 chr1 150,268,200 150,280,916 12,717
ENST00000369102.5 hg19 chr1 150,240,600 150,253,327 12,728
ENST00000369098.3 hg19 chr1 150,245,183 150,253,325 8,143
ENST00000369099.8 hg19 chr1 150,245,193 150,253,327 8,135
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