XPA XPA, DNA damage recognition and repair factor

Information
Symbol
XPA
Type
protein-coding
Description
XPA, DNA damage recognition and repair factor
Entrez Gene ID
7507
Genome
hg19
Position
chr9:100,437,191-100,459,622
Genome
hg38
Position
chr9:97,674,909-97,697,340
MIM
611153 OMIM
HGNC
HGNC:12814 HGNC
Ensembl
ENSG00000136936 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 118
Likely pathogenic 0 90
Benign 0 40
Likely benign 0 340
Conflicting classifications of pathogenicity 0 24
not provided 0 2
Uncertain significance 8 116
Ranking
ClinVar
0
0
120
532
2
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 XP1
SYNONYM XPAC
MIM 611153 OMIM
HGNC HGNC:12814 HGNC
Ensembl ENSG00000136936 Ensembl
AllianceGenome HGNC:12814
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375128.5 hg38 chr9 97,674,909 97,697,340 22,432
ENST00000375128.5 hg19 chr9 100,437,191 100,459,622 22,432
KeyValue
strand-
start100,437,190
Gene SymbolXPA
Entrez GeneId7,507
Chr Band9q22.3
end100,459,690
chrchr9
Namexeroderma pigmentosum, complementation group A
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