KASH5 KASH domain containing 5

Information
Symbol
KASH5
Type
protein-coding
Description
KASH domain containing 5
Entrez Gene ID
147872
Genome
hg19
Position
chr19:49,891,506-49,921,247
Genome
hg38
Position
chr19:49,388,249-49,417,990
MIM
618125 OMIM
HGNC
HGNC:26520 HGNC
Ensembl
ENSG00000161609 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Likely benign 0 12
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
70
8
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 CCDC155
SYNONYM POF22
SYNONYM SPGF88
MIM 618125 OMIM
HGNC HGNC:26520 HGNC
Ensembl ENSG00000161609 Ensembl
AllianceGenome HGNC:26520
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447857.8 hg38 chr19 49,388,249 49,417,990 29,742
ENST00000447857.8 hg19 chr19 49,891,506 49,921,247 29,742
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