XPC XPC complex subunit, DNA damage recognition and repair factor

Information
Symbol
XPC
Type
protein-coding
Description
XPC complex subunit, DNA damage recognition and repair factor
Entrez Gene ID
7508
Genome
hg19
Position
chr3:14,186,647-14,220,101
Genome
hg38
Position
chr3:14,145,147-14,178,601
MIM
613208 OMIM
HGNC
HGNC:12816 HGNC
Ensembl
ENSG00000154767 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 224
Likely pathogenic 1 180
Benign 0 138
Likely benign 0 1,186
Conflicting classifications of pathogenicity 0 72
not provided 0 2
Uncertain significance 18 306
Ranking
ClinVar
0
0
278
1,654
4
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 :
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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 RAD4
SYNONYM XP3
SYNONYM XPCC
SYNONYM p125
MIM 613208 OMIM
HGNC HGNC:12816 HGNC
Ensembl ENSG00000154767 Ensembl
AllianceGenome HGNC:12816
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000285021.12 hg38 chr3 14,145,147 14,178,601 33,455
ENST00000285021.12 hg19 chr3 14,186,647 14,220,101 33,455
KeyValue
strand-
start14,186,647
Gene SymbolXPC
Entrez GeneId7,508
Chr Band3p25
end14,220,171
chrchr3
Namexeroderma pigmentosum, complementation group C
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