EPS8L1 EPS8 signaling adaptor L1

Information
Symbol
EPS8L1
Type
protein-coding
Description
EPS8 signaling adaptor L1
Entrez Gene ID
54869
Genome
hg19
Position
chr19:55,587,237-55,599,291
Genome
hg38
Position
chr19:55,075,869-55,087,923
MIM
614987 OMIM
HGNC
HGNC:21295 HGNC
Ensembl
ENSG00000131037 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 142
Ranking
ClinVar
0
0
0
142
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 :
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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 :
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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 DRC3
SYNONYM EPS8R1
SYNONYM PP10566
MIM 614987 OMIM
HGNC HGNC:21295 HGNC
Ensembl ENSG00000131037 Ensembl
AllianceGenome HGNC:21295
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000245618.5 hg38 chr19 55,080,392 55,087,919 7,528
ENST00000540810.5 hg38 chr19 55,075,903 55,087,848 11,946
ENST00000586329.5 hg38 chr19 55,072,020 55,087,919 15,900
ENST00000201647.11 hg38 chr19 55,075,869 55,087,923 12,055
ENST00000588359.5 hg38 chr19 55,080,392 55,087,689 7,298
ENST00000201647.11 hg19 chr19 55,587,237 55,599,291 12,055
ENST00000540810.5 hg19 chr19 55,587,271 55,599,216 11,946
ENST00000588359.5 hg19 chr19 55,591,760 55,599,057 7,298
ENST00000245618.5 hg19 chr19 55,591,760 55,599,287 7,528
ENST00000586329.5 hg19 chr19 55,583,388 55,599,287 15,900
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