EPN1 epsin 1

Information
Symbol
EPN1
Type
protein-coding
Description
epsin 1
Entrez Gene ID
29924
Genome
hg19
Position
chr19:56,187,991-56,206,807
Genome
hg38
Position
chr19:55,676,625-55,695,441
MIM
607262 OMIM
HGNC
HGNC:21604 HGNC
Ensembl
ENSG00000063245 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 14
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
114
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 607262 OMIM
HGNC HGNC:21604 HGNC
Ensembl ENSG00000063245 Ensembl
AllianceGenome HGNC:21604
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000270460.11 hg38 chr19 55,675,226 55,709,533 34,308
ENST00000411543.6 hg38 chr19 55,676,625 55,695,441 18,817
ENST00000085079.11 hg38 chr19 55,675,245 55,695,766 20,522
ENST00000270460.11 hg19 chr19 56,186,592 56,220,899 34,308
ENST00000085079.11 hg19 chr19 56,186,611 56,207,132 20,522
ENST00000411543.6 hg19 chr19 56,187,991 56,206,807 18,817
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