KRT71 keratin 71

Information
Symbol
KRT71
Type
protein-coding
Description
keratin 71
Entrez Gene ID
112802
Genome
hg19
Position
chr12:52,937,693-52,946,929
Genome
hg38
Position
chr12:52,543,909-52,553,145
MIM
608245 OMIM
HGNC
HGNC:28927 HGNC
Ensembl
ENSG00000139648 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 82
Likely benign 0 44
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 100
Ranking
ClinVar
0
0
46
174
2
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 KRT6IRS
SYNONYM HYPT13
SYNONYM K6IRS1
SYNONYM KRT6IRS1
MIM 608245 OMIM
HGNC HGNC:28927 HGNC
Ensembl ENSG00000139648 Ensembl
AllianceGenome HGNC:28927
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000267119.6 hg38 chr12 52,543,909 52,553,145 9,237
ENST00000267119.6 hg19 chr12 52,937,693 52,946,929 9,237
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