NLRP7 NLR family pyrin domain containing 7

Information
Symbol
NLRP7
Type
protein-coding
Description
NLR family pyrin domain containing 7
Entrez Gene ID
199713
Genome
hg19
Position
chr19:55,434,883-55,477,611
Genome
hg38
Position
chr19:54,923,515-54,966,243
MIM
609661 OMIM
HGNC
HGNC:22947 HGNC
Ensembl
ENSG00000167634 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 30
Likely pathogenic 2 10
Benign 0 32
Likely benign 0 50
Conflicting classifications of pathogenicity 0 28
not provided 0 190
Uncertain significance 0 244
Ranking
ClinVar
0
0
44
296
20
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 CLR19.4
SYNONYM HYDM
SYNONYM NALP7
SYNONYM NOD12
SYNONYM PAN7
SYNONYM PYPAF3
MIM 609661 OMIM
HGNC HGNC:22947 HGNC
Ensembl ENSG00000167634 Ensembl
AllianceGenome HGNC:22947
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592784.6 hg38 chr19 54,923,515 54,947,530 24,016
ENST00000590030.5 hg38 chr19 54,923,515 54,941,752 18,238
ENST00000588756.5 hg38 chr19 54,923,515 54,966,243 42,729
ENST00000328092.9 hg38 chr19 54,923,510 54,941,750 18,241
ENST00000340844.6 hg38 chr19 54,923,509 54,947,505 23,997
ENST00000340844.6 hg19 chr19 55,434,877 55,458,873 23,997
ENST00000328092.9 hg19 chr19 55,434,878 55,453,118 18,241
ENST00000590030.5 hg19 chr19 55,434,883 55,453,120 18,238
ENST00000592784.6 hg19 chr19 55,434,883 55,458,898 24,016
ENST00000588756.5 hg19 chr19 55,434,883 55,477,611 42,729
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