KRT17 keratin 17

Information
Symbol
KRT17
Type
protein-coding
Description
keratin 17
Entrez Gene ID
3872
Genome
hg19
Position
chr17:39,775,694-39,780,827
Genome
hg38
Position
chr17:41,619,442-41,624,575
MIM
148069 OMIM
HGNC
HGNC:6427 HGNC
Ensembl
ENSG00000128422 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 2
Benign 4 62
Likely benign 0 72
Conflicting classifications of pathogenicity 0 6
not provided 0 14
Uncertain significance 0 68
Ranking
ClinVar
0
0
18
192
14
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 39.1
SYNONYM CK-17
SYNONYM K17
SYNONYM PC
SYNONYM PC2
SYNONYM PCHC1
MIM 148069 OMIM
HGNC HGNC:6427 HGNC
Ensembl ENSG00000128422 Ensembl
AllianceGenome HGNC:6427
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000311208.13 hg38 chr17 41,619,442 41,624,575 5,134
ENST00000311208.13 hg19 chr17 39,775,694 39,780,827 5,134
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