KRTAP13-1 keratin associated protein 13-1

Information
Symbol
KRTAP13-1
Type
protein-coding
Description
keratin associated protein 13-1
Entrez Gene ID
140258
Genome
hg19
Position
chr21:31,768,349-31,769,140
Genome
hg38
Position
chr21:30,396,031-30,396,822
MIM
608718 OMIM
HGNC
HGNC:18924 HGNC
Ensembl
ENSG00000198390 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 2 26
Ranking
ClinVar
0
0
0
30
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 KAP13.1
SYNONYM KRTAP13.1
MIM 608718 OMIM
HGNC HGNC:18924 HGNC
Ensembl ENSG00000198390 Ensembl
AllianceGenome HGNC:18924
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355459.4 hg38 chr21 30,396,031 30,396,822 792
ENST00000355459.4 hg19 chr21 31,768,349 31,769,140 792
Genome browser