P2RX6 purinergic receptor P2X 6

Information
Symbol
P2RX6
Type
protein-coding
Description
purinergic receptor P2X 6
Entrez Gene ID
9127
Genome
hg19
Position
chr22:21,369,454-21,382,297
Genome
hg38
Position
chr22:21,015,165-21,028,008
MIM
608077 OMIM
HGNC
HGNC:8538 HGNC
Ensembl
ENSG00000099957 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
not provided 14 0
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
64
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
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 P2RXL1
SYNONYM P2X6
SYNONYM P2XM
MIM 608077 OMIM
HGNC HGNC:8538 HGNC
Ensembl ENSG00000099957 Ensembl
AllianceGenome HGNC:8538
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000401443.5 hg38 chr22 21,015,170 21,027,198 12,029
ENST00000413302.7 hg38 chr22 21,015,165 21,028,008 12,844
ENST00000413302.7 hg19 chr22 21,369,454 21,382,297 12,844
ENST00000401443.5 hg19 chr22 21,369,459 21,381,487 12,029
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