PAX8 paired box 8

Information
Symbol
PAX8
Type
protein-coding
Description
paired box 8
Entrez Gene ID
7849
Genome
hg19
Position
chr2:113,973,574-114,036,498
Genome
hg38
Position
chr2:113,215,997-113,278,921
MIM
167415 OMIM
HGNC
HGNC:8622 HGNC
Ensembl
ENSG00000125618 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 11 24
Likely pathogenic 0 14
Benign 0 92
Likely benign 0 50
Conflicting classifications of pathogenicity 0 36
not provided 13 2
Uncertain significance 0 204
Ranking
ClinVar
0
0
34
312
26
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 PAX-8
MIM 167415 OMIM
HGNC HGNC:8622 HGNC
Ensembl ENSG00000125618 Ensembl
AllianceGenome HGNC:8622
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000429538.8 hg38 chr2 113,215,997 113,278,921 62,925
ENST00000497038.6 hg38 chr2 113,218,522 113,241,779 23,258
ENST00000397647.7 hg38 chr2 113,215,997 113,278,911 62,915
ENST00000263335.11 hg38 chr2 113,215,997 113,278,911 62,915
ENST00000681162.1 hg38 chr2 113,215,997 113,278,921 62,925
ENST00000348715.9 hg38 chr2 113,215,997 113,278,911 62,915
ENST00000263334.9 hg38 chr2 113,215,997 113,278,921 62,925
ENST00000468980.4 hg38 chr2 113,217,376 113,278,417 61,042
ENST00000263335.11 hg19 chr2 113,973,574 114,036,488 62,915
ENST00000348715.9 hg19 chr2 113,973,574 114,036,488 62,915
ENST00000397647.7 hg19 chr2 113,973,574 114,036,488 62,915
ENST00000263334.9 hg19 chr2 113,973,574 114,036,498 62,925
ENST00000429538.8 hg19 chr2 113,973,574 114,036,498 62,925
ENST00000681162.1 hg19 chr2 113,973,574 114,036,498 62,925
ENST00000468980.4 hg19 chr2 113,974,953 114,035,994 61,042
ENST00000497038.6 hg19 chr2 113,976,099 113,999,356 23,258
KeyValue
strand-
start113,973,573
Gene SymbolPAX8
Entrez GeneId7,849
Chr Band2q12-q14
end114,036,497
chrchr2
Namepaired box gene 8
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