KPTN kaptin, actin binding protein

Information
Symbol
KPTN
Type
protein-coding
Description
kaptin, actin binding protein
Entrez Gene ID
11133
Genome
hg19
Position
chr19:47,978,407-47,987,476
Genome
hg38
Position
chr19:47,475,150-47,484,219
MIM
615620 OMIM
HGNC
HGNC:6404 HGNC
Ensembl
ENSG00000118162 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 12
Benign 0 34
Likely benign 0 96
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 150
Ranking
ClinVar
0
0
52
252
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 :
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 2E4
SYNONYM KICS4
SYNONYM MRT41
MIM 615620 OMIM
HGNC HGNC:6404 HGNC
Ensembl ENSG00000118162 Ensembl
AllianceGenome HGNC:6404
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000338134.8 hg38 chr19 47,475,150 47,484,219 9,070
ENST00000338134.8 hg19 chr19 47,978,407 47,987,476 9,070
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