KRT1 keratin 1

Information
Symbol
KRT1
Type
protein-coding
Description
keratin 1
Entrez Gene ID
3848
Genome
hg19
Position
chr12:53,068,520-53,074,191
Genome
hg38
Position
chr12:52,674,736-52,680,407
MIM
139350 OMIM
HGNC
HGNC:6412 HGNC
Ensembl
ENSG00000167768 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 60
Likely pathogenic 0 34
Benign 10 76
Likely benign 0 54
Conflicting classifications of pathogenicity 0 10
not provided 0 66
Uncertain significance 0 144
Ranking
ClinVar
0
0
56
252
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 AEI2
SYNONYM CK1
SYNONYM EHK
SYNONYM EHK1
SYNONYM EPPK
SYNONYM K1
SYNONYM KRT1A
SYNONYM NEPPK
MIM 139350 OMIM
HGNC HGNC:6412 HGNC
Ensembl ENSG00000167768 Ensembl
AllianceGenome HGNC:6412
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252244.3 hg38 chr12 52,674,736 52,680,407 5,672
ENST00000252244.3 hg19 chr12 53,068,520 53,074,191 5,672
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