NLRP12 NLR family pyrin domain containing 12

Information
Symbol
NLRP12
Type
protein-coding
Description
NLR family pyrin domain containing 12
Entrez Gene ID
91662
Genome
hg19
Position
chr19:54,296,997-54,327,657
Genome
hg38
Position
chr19:53,793,743-53,824,403
MIM
609648 OMIM
HGNC
HGNC:22938 HGNC
Ensembl
ENSG00000142405 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 14
Benign 16 186
Likely benign 0 602
Conflicting classifications of pathogenicity 0 164
not provided 0 8
Uncertain significance 0 1,308
Ranking
ClinVar
0
0
382
1,676
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
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 CLR19.3
SYNONYM FCAS2
SYNONYM NALP12
SYNONYM PAN6
SYNONYM PYPAF7
SYNONYM RNO
SYNONYM RNO2
MIM 609648 OMIM
HGNC HGNC:22938 HGNC
Ensembl ENSG00000142405 Ensembl
AllianceGenome HGNC:22938
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000324134.11 hg38 chr19 53,793,741 53,824,314 30,574
ENST00000345770.9 hg38 chr19 53,793,743 53,824,394 30,652
ENST00000391772.1 hg38 chr19 53,793,743 53,824,394 30,652
ENST00000391775.7 hg38 chr19 53,793,742 53,824,317 30,576
ENST00000391773.7 hg38 chr19 53,793,743 53,824,403 30,661
ENST00000324134.11 hg19 chr19 54,296,995 54,327,568 30,574
ENST00000391775.7 hg19 chr19 54,296,996 54,327,571 30,576
ENST00000345770.9 hg19 chr19 54,296,997 54,327,648 30,652
ENST00000391772.1 hg19 chr19 54,296,997 54,327,648 30,652
ENST00000391773.7 hg19 chr19 54,296,997 54,327,657 30,661
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