EPS8L2 EPS8 signaling adaptor L2

Information
Symbol
EPS8L2
Type
protein-coding
Description
EPS8 signaling adaptor L2
Entrez Gene ID
64787
Genome
hg19
Position
chr11:706,117-727,724
Genome
hg38
Position
chr11:706,117-727,724
MIM
614988 OMIM
HGNC
HGNC:21296 HGNC
Ensembl
ENSG00000177106 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 2
Benign 0 69
Likely benign 0 204
Conflicting classifications of pathogenicity 0 6
not provided 0 2
Uncertain significance 0 272
Ranking
ClinVar
0
0
79
472
6
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 DFNB106
SYNONYM EPS8R2
MIM 614988 OMIM
HGNC HGNC:21296 HGNC
Ensembl ENSG00000177106 Ensembl
AllianceGenome HGNC:21296
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533256.5 hg38 chr11 706,117 727,724 21,608
ENST00000318562.13 hg38 chr11 706,231 727,727 21,497
ENST00000526198.5 hg38 chr11 709,368 727,034 17,667
ENST00000650127.1 hg38 chr11 706,216 727,692 21,477
ENST00000530636.5 hg38 chr11 706,629 727,051 20,423
ENST00000614442.4 hg38 chr11 706,120 727,726 21,607
ENST00000318562.13 hg19 chr11 706,231 727,727 21,497
ENST00000526198.5 hg19 chr11 709,368 727,034 17,667
ENST00000533256.5 hg19 chr11 706,117 727,724 21,608
ENST00000614442.4 hg19 chr11 706,120 727,726 21,607
ENST00000530636.5 hg19 chr11 706,629 727,051 20,423
ENST00000650127.1 hg19 chr11 706,216 727,692 21,477
Genome browser