P2RX5 purinergic receptor P2X 5

Information
Symbol
P2RX5
Type
protein-coding
Description
purinergic receptor P2X 5
Entrez Gene ID
5026
Genome
hg19
Position
chr17:3,576,521-3,599,449
Genome
hg38
Position
chr17:3,673,227-3,696,155
MIM
602836 OMIM
HGNC
HGNC:8536 HGNC
Ensembl
ENSG00000083454 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 74
Ranking
ClinVar
0
0
2
82
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 :
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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 LRH-1
SYNONYM P2X5
SYNONYM P2X5R
MIM 602836 OMIM
HGNC HGNC:8536 HGNC
Ensembl ENSG00000083454 Ensembl
AllianceGenome HGNC:8536
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225328.10 hg38 chr17 3,673,227 3,696,155 22,929
ENST00000552050.5 hg38 chr17 3,673,600 3,692,002 18,403
ENST00000697413.1 hg38 chr17 3,673,227 3,696,155 22,929
ENST00000552276.5 hg38 chr17 3,672,199 3,696,096 23,898
ENST00000547178.5 hg38 chr17 3,673,227 3,696,096 22,870
ENST00000345901.7 hg38 chr17 3,673,245 3,696,216 22,972
ENST00000551178.5 hg38 chr17 3,673,227 3,696,033 22,807
ENST00000552276.5 hg19 chr17 3,575,493 3,599,390 23,898
ENST00000551178.5 hg19 chr17 3,576,521 3,599,327 22,807
ENST00000547178.5 hg19 chr17 3,576,521 3,599,390 22,870
ENST00000697413.1 hg19 chr17 3,576,521 3,599,449 22,929
ENST00000225328.10 hg19 chr17 3,576,521 3,599,449 22,929
ENST00000345901.7 hg19 chr17 3,576,539 3,599,510 22,972
ENST00000552050.5 hg19 chr17 3,576,894 3,595,296 18,403
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