KRTAP11-1 keratin associated protein 11-1

Information
Symbol
KRTAP11-1
Type
protein-coding
Description
keratin associated protein 11-1
Entrez Gene ID
337880
Genome
hg19
Position
chr21:32,252,963-32,253,899
Genome
hg38
Position
chr21:30,880,644-30,881,580
MIM
600064 OMIM
HGNC
HGNC:18922 HGNC
Ensembl
ENSG00000182591 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
20
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 :
Search word :
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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 HACL-1
SYNONYM HACL1
SYNONYM KAP11.1
MIM 600064 OMIM
HGNC HGNC:18922 HGNC
Ensembl ENSG00000182591 Ensembl
AllianceGenome HGNC:18922
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000332378.6 hg38 chr21 30,880,644 30,881,580 937
ENST00000332378.6 hg19 chr21 32,252,963 32,253,899 937
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