KRT14 keratin 14

Information
Symbol
KRT14
Type
protein-coding
Description
keratin 14
Entrez Gene ID
3861
Genome
hg19
Position
chr17:39,738,531-39,743,147
Genome
hg38
Position
chr17:41,582,279-41,586,895
MIM
148066 OMIM
HGNC
HGNC:6416 HGNC
Ensembl
ENSG00000186847 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 102
Likely pathogenic 0 36
Benign 4 50
Likely benign 0 70
Conflicting classifications of pathogenicity 0 2
not provided 0 90
Uncertain significance 0 106
Ranking
ClinVar
0
0
72
250
28
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 CK14
SYNONYM EBS1
SYNONYM EBS1A
SYNONYM EBS1B
SYNONYM EBS1C
SYNONYM EBS1D
SYNONYM EBS3
SYNONYM EBS4
SYNONYM K14
SYNONYM NFJ
MIM 148066 OMIM
HGNC HGNC:6416 HGNC
Ensembl ENSG00000186847 Ensembl
AllianceGenome HGNC:6416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000167586.7 hg38 chr17 41,582,279 41,586,895 4,617
ENST00000167586.7 hg19 chr17 39,738,531 39,743,147 4,617
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