KRTAP12-4 keratin associated protein 12-4

Information
Symbol
KRTAP12-4
Type
protein-coding
Description
keratin associated protein 12-4
Entrez Gene ID
386684
Genome
hg19
Position
chr21:46,074,130-46,074,576
Genome
hg38
Position
chr21:44,654,213-44,654,659
HGNC
HGNC:20532 HGNC
Ensembl
ENSG00000212933 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 1 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
10
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
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 KRTAP12.4
HGNC HGNC:20532 HGNC
Ensembl ENSG00000212933 Ensembl
AllianceGenome HGNC:20532
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000391618.1 hg38 chr21 44,654,213 44,654,659 447
ENST00000391618.1 hg19 chr21 46,074,130 46,074,576 447
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