C8orf48 chromosome 8 open reading frame 48

Information
Symbol
C8orf48
Type
protein-coding
Description
chromosome 8 open reading frame 48
Entrez Gene ID
157773
Genome
hg19
Position
chr8:13,424,378-13,425,797
Genome
hg38
Position
chr8:13,566,869-13,568,288
HGNC
HGNC:26345 HGNC
Ensembl
ENSG00000164743 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
16
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
[No Data.]
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:26345 HGNC
Ensembl ENSG00000164743 Ensembl
AllianceGenome HGNC:26345
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297324.5 hg38 chr8 13,566,869 13,568,288 1,420
ENST00000297324.5 hg19 chr8 13,424,378 13,425,797 1,420
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