P2RX7 purinergic receptor P2X 7

Information
Symbol
P2RX7
Type
protein-coding
Description
purinergic receptor P2X 7
Entrez Gene ID
5027
Genome
hg19
Position
chr12:121,570,679-121,625,835
Genome
hg38
Position
chr12:121,132,876-121,188,032
MIM
602566 OMIM
HGNC
HGNC:8537 HGNC
Ensembl
ENSG00000089041 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 22
Uncertain significance 0 62
Ranking
ClinVar
0
0
4
90
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
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MGeND data only
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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
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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 P2X7
MIM 602566 OMIM
HGNC HGNC:8537 HGNC
Ensembl ENSG00000089041 Ensembl
AllianceGenome HGNC:8537
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000328963.10 hg38 chr12 121,132,876 121,188,032 55,157
ENST00000328963.10 hg19 chr12 121,570,679 121,625,835 55,157
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