NLRP8 NLR family pyrin domain containing 8

Information
Symbol
NLRP8
Type
protein-coding
Description
NLR family pyrin domain containing 8
Entrez Gene ID
126205
Genome
hg19
Position
chr19:56,459,198-56,499,995
Genome
hg38
Position
chr19:55,947,832-55,988,629
MIM
609659 OMIM
HGNC
HGNC:22940 HGNC
Ensembl
ENSG00000179709 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 14
not provided 0 26
Uncertain significance 0 110
Ranking
ClinVar
0
0
2
124
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 :
Search word :
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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 CLR19.2
SYNONYM NALP8
SYNONYM NOD16
SYNONYM PAN4
MIM 609659 OMIM
HGNC HGNC:22940 HGNC
Ensembl ENSG00000179709 Ensembl
AllianceGenome HGNC:22940
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291971.7 hg38 chr19 55,947,832 55,988,629 40,798
ENST00000590542.1 hg38 chr19 55,947,903 55,987,913 40,011
ENST00000291971.7 hg19 chr19 56,459,198 56,499,995 40,798
ENST00000590542.1 hg19 chr19 56,459,269 56,499,279 40,011
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