EXPH5 exophilin 5

Information
Symbol
EXPH5
Type
protein-coding
Description
exophilin 5
Entrez Gene ID
23086
Genome
hg19
Position
chr11:108,376,162-108,464,495
Genome
hg38
Position
chr11:108,505,435-108,593,768
MIM
612878 OMIM
HGNC
HGNC:30578 HGNC
Ensembl
ENSG00000110723 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Benign 0 111
Likely benign 0 96
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 244
Ranking
ClinVar
0
0
66
373
14
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 EBS4
SYNONYM SLAC2-B
SYNONYM SLAC2B
MIM 612878 OMIM
HGNC HGNC:30578 HGNC
Ensembl ENSG00000110723 Ensembl
AllianceGenome HGNC:30578
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265843.9 hg38 chr11 108,505,435 108,593,768 88,334
ENST00000525344.5 hg38 chr11 108,508,949 108,593,738 84,790
ENST00000265843.9 hg19 chr11 108,376,162 108,464,495 88,334
ENST00000525344.5 hg19 chr11 108,379,676 108,464,465 84,790
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