P2RX1 purinergic receptor P2X 1

Information
Symbol
P2RX1
Type
protein-coding
Description
purinergic receptor P2X 1
Entrez Gene ID
5023
Genome
hg19
Position
chr17:3,799,886-3,819,759
Genome
hg38
Position
chr17:3,896,592-3,916,465
MIM
600845 OMIM
HGNC
HGNC:8533 HGNC
Ensembl
ENSG00000108405 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 26
Likely benign 0 24
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
104
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 :
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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 :
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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 P2X1
MIM 600845 OMIM
HGNC HGNC:8533 HGNC
Ensembl ENSG00000108405 Ensembl
AllianceGenome HGNC:8533
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225538.4 hg38 chr17 3,896,592 3,916,465 19,874
ENST00000225538.4 hg19 chr17 3,799,886 3,819,759 19,874
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