KRT78 keratin 78

Information
Symbol
KRT78
Type
protein-coding
Description
keratin 78
Entrez Gene ID
196374
Genome
hg19
Position
chr12:53,231,591-53,242,778
Genome
hg38
Position
chr12:52,837,807-52,848,994
MIM
611159 OMIM
HGNC
HGNC:28926 HGNC
Ensembl
ENSG00000170423 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 14
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
96
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 :
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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 CK-78
SYNONYM K5B
SYNONYM K78
SYNONYM Kb40
MIM 611159 OMIM
HGNC HGNC:28926 HGNC
Ensembl ENSG00000170423 Ensembl
AllianceGenome HGNC:28926
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304620.5 hg38 chr12 52,837,807 52,848,994 11,188
ENST00000359499.8 hg38 chr12 52,837,804 52,848,283 10,480
ENST00000359499.8 hg19 chr12 53,231,588 53,242,067 10,480
ENST00000304620.5 hg19 chr12 53,231,591 53,242,778 11,188
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