KRTAP1-1 keratin associated protein 1-1

Information
Symbol
KRTAP1-1
Type
protein-coding
Description
keratin associated protein 1-1
Entrez Gene ID
81851
Genome
hg19
Position
chr17:39,196,793-39,197,702
Genome
hg38
Position
chr17:41,040,541-41,041,450
MIM
608819 OMIM
HGNC
HGNC:16772 HGNC
Ensembl
ENSG00000188581 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
38
0
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 :
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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 HB2A
SYNONYM KAP1.1
SYNONYM KAP1.1A
SYNONYM KAP1.1B
SYNONYM KAP1.6
SYNONYM KAP1.7
SYNONYM KRTAP1.1
SYNONYM KRTAP1A
SYNONYM hKAP1.7
MIM 608819 OMIM
HGNC HGNC:16772 HGNC
Ensembl ENSG00000188581 Ensembl
AllianceGenome HGNC:16772
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000306271.5 hg38 chr17 41,040,541 41,041,450 910
ENST00000306271.5 hg19 chr17 39,196,793 39,197,702 910
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