NLRP5 NLR family pyrin domain containing 5

Information
Symbol
NLRP5
Type
protein-coding
Description
NLR family pyrin domain containing 5
Entrez Gene ID
126206
Genome
hg19
Position
chr19:56,511,092-56,573,176
Genome
hg38
Position
chr19:55,999,726-56,061,810
MIM
609658 OMIM
HGNC
HGNC:21269 HGNC
Ensembl
ENSG00000171487 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 6
Benign 0 78
Likely benign 0 148
Conflicting classifications of pathogenicity 0 2
not provided 0 46
Uncertain significance 0 160
Ranking
ClinVar
0
0
54
306
22
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 CLR19.8
SYNONYM MATER
SYNONYM NALP5
SYNONYM OZEMA19
SYNONYM PAN11
SYNONYM PYPAF8
MIM 609658 OMIM
HGNC HGNC:21269 HGNC
Ensembl ENSG00000171487 Ensembl
AllianceGenome HGNC:21269
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000390649.8 hg38 chr19 55,999,726 56,061,810 62,085
ENST00000390649.8 hg19 chr19 56,511,092 56,573,176 62,085
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