EPN3 epsin 3

Information
Symbol
EPN3
Type
protein-coding
Description
epsin 3
Entrez Gene ID
55040
Genome
hg19
Position
chr17:48,610,096-48,621,111
Genome
hg38
Position
chr17:50,532,735-50,543,750
MIM
607264 OMIM
HGNC
HGNC:18235 HGNC
Ensembl
ENSG00000049283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
106
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
MIM 607264 OMIM
HGNC HGNC:18235 HGNC
Ensembl ENSG00000049283 Ensembl
AllianceGenome HGNC:18235
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000268933.8 hg38 chr17 50,532,735 50,543,750 11,016
ENST00000268933.8 hg19 chr17 48,610,096 48,621,111 11,016
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