KRT83 keratin 83

Information
Symbol
KRT83
Type
protein-coding
Description
keratin 83
Entrez Gene ID
3889
Genome
hg19
Position
chr12:52,708,085-52,715,182
Genome
hg38
Position
chr12:52,314,301-52,321,398
MIM
602765 OMIM
HGNC
HGNC:6460 HGNC
Ensembl
ENSG00000170523 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 4
Benign 14 144
Likely benign 0 70
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 152
Ranking
ClinVar
0
0
76
282
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 EKVP5
SYNONYM HB3
SYNONYM Hb-3
SYNONYM KRTHB3
SYNONYM MNLIX
MIM 602765 OMIM
HGNC HGNC:6460 HGNC
Ensembl ENSG00000170523 Ensembl
AllianceGenome HGNC:6460
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293670.3 hg38 chr12 52,314,301 52,321,398 7,098
ENST00000293670.3 hg19 chr12 52,708,085 52,715,182 7,098
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