NLRP13 NLR family pyrin domain containing 13

Information
Symbol
NLRP13
Type
protein-coding
Description
NLR family pyrin domain containing 13
Entrez Gene ID
126204
Genome
hg19
Position
chr19:56,407,311-56,443,702
Genome
hg38
Position
chr19:55,895,945-55,932,336
MIM
609660 OMIM
HGNC
HGNC:22937 HGNC
Ensembl
ENSG00000173572 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 18
not provided 0 30
Uncertain significance 0 124
Ranking
ClinVar
0
0
0
142
2
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 CLR19.7
SYNONYM NALP13
SYNONYM NOD14
SYNONYM PAN13
MIM 609660 OMIM
HGNC HGNC:22937 HGNC
Ensembl ENSG00000173572 Ensembl
AllianceGenome HGNC:22937
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342929.4 hg38 chr19 55,895,945 55,932,336 36,392
ENST00000588751.5 hg38 chr19 55,891,699 55,932,336 40,638
ENST00000588751.5 hg19 chr19 56,403,065 56,443,702 40,638
ENST00000342929.4 hg19 chr19 56,407,311 56,443,702 36,392
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