KRT80 keratin 80

Information
Symbol
KRT80
Type
protein-coding
Description
keratin 80
Entrez Gene ID
144501
Genome
hg19
Position
chr12:52,562,780-52,585,798
Genome
hg38
Position
chr12:52,168,996-52,192,014
MIM
611161 OMIM
HGNC
HGNC:27056 HGNC
Ensembl
ENSG00000167767 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
82
0
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 KB20
MIM 611161 OMIM
HGNC HGNC:27056 HGNC
Ensembl ENSG00000167767 Ensembl
AllianceGenome HGNC:27056
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000394815.3 hg38 chr12 52,168,996 52,192,014 23,019
ENST00000313234.9 hg38 chr12 52,168,996 52,192,000 23,005
ENST00000313234.9 hg19 chr12 52,562,780 52,585,784 23,005
ENST00000394815.3 hg19 chr12 52,562,780 52,585,798 23,019
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