KRT5 keratin 5

Information
Symbol
KRT5
Type
protein-coding
Description
keratin 5
Entrez Gene ID
3852
Genome
hg19
Position
chr12:52,908,359-52,914,178
Genome
hg38
Position
chr12:52,514,575-52,520,394
MIM
148040 OMIM
HGNC
HGNC:6442 HGNC
Ensembl
ENSG00000186081 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 116
Likely pathogenic 0 54
Benign 8 84
Likely benign 0 76
Conflicting classifications of pathogenicity 0 20
not provided 0 136
risk factor 0 2
Uncertain significance 0 176
Ranking
ClinVar
0
0
114
328
34
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 CK5
SYNONYM DDD
SYNONYM DDD1
SYNONYM EBS1
SYNONYM EBS2
SYNONYM EBS2A
SYNONYM EBS2B
SYNONYM EBS2C
SYNONYM EBS2D
SYNONYM EBS2E
SYNONYM EBS2F
SYNONYM K5
SYNONYM KRT5A
MIM 148040 OMIM
HGNC HGNC:6442 HGNC
Ensembl ENSG00000186081 Ensembl
AllianceGenome HGNC:6442
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252242.9 hg38 chr12 52,514,575 52,520,394 5,820
ENST00000252242.9 hg19 chr12 52,908,359 52,914,178 5,820
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