KRT6C keratin 6C

Information
Symbol
KRT6C
Type
protein-coding
Description
keratin 6C
Entrez Gene ID
286887
Genome
hg19
Position
chr12:52,862,300-52,867,589
Genome
hg38
Position
chr12:52,468,516-52,473,805
MIM
612315 OMIM
HGNC
HGNC:20406 HGNC
Ensembl
ENSG00000170465 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 72
Likely benign 0 70
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 90
Ranking
ClinVar
0
0
40
184
4
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 K6E
SYNONYM KRT6E
SYNONYM PPKNEFD
MIM 612315 OMIM
HGNC HGNC:20406 HGNC
Ensembl ENSG00000170465 Ensembl
AllianceGenome HGNC:20406
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252250.7 hg38 chr12 52,468,516 52,473,805 5,290
ENST00000252250.7 hg19 chr12 52,862,300 52,867,589 5,290
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