NLRP4 NLR family pyrin domain containing 4

Information
Symbol
NLRP4
Type
protein-coding
Description
NLR family pyrin domain containing 4
Entrez Gene ID
147945
Genome
hg19
Position
chr19:56,347,906-56,393,221
Genome
hg38
Position
chr19:55,836,540-55,881,855
MIM
609645 OMIM
HGNC
HGNC:22943 HGNC
Ensembl
ENSG00000160505 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 18
not provided 0 34
Uncertain significance 0 124
Ranking
ClinVar
0
0
2
144
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 :
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 CLR19.5
SYNONYM CT58
SYNONYM NALP4
SYNONYM PAN2
SYNONYM PYPAF4
SYNONYM RNH2
MIM 609645 OMIM
HGNC HGNC:22943 HGNC
Ensembl ENSG00000160505 Ensembl
AllianceGenome HGNC:22943
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000301295.11 hg38 chr19 55,836,540 55,881,855 45,316
ENST00000587891.5 hg38 chr19 55,857,445 55,881,854 24,410
ENST00000301295.11 hg19 chr19 56,347,906 56,393,221 45,316
ENST00000587891.5 hg19 chr19 56,368,811 56,393,220 24,410
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