EBPL EBP like

Information
Symbol
EBPL
Type
protein-coding
Description
EBP like
Entrez Gene ID
84650
Genome
hg19
Position
chr13:50,234,810-50,265,622
Genome
hg38
Position
chr13:49,660,674-49,691,486
MIM
617335 OMIM
HGNC
HGNC:18061 HGNC
Ensembl
ENSG00000123179 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
24
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
SYNONYM EBRP
MIM 617335 OMIM
HGNC HGNC:18061 HGNC
Ensembl ENSG00000123179 Ensembl
AllianceGenome HGNC:18061
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378272.9 hg38 chr13 49,660,723 49,691,463 30,741
ENST00000378270.5 hg38 chr13 49,660,834 49,691,457 30,624
ENST00000378268.1 hg38 chr13 49,668,170 49,691,463 23,294
ENST00000378284.6 hg38 chr13 49,660,723 49,691,463 30,741
ENST00000242827.11 hg38 chr13 49,660,674 49,691,486 30,813
ENST00000242827.11 hg19 chr13 50,234,810 50,265,622 30,813
ENST00000378272.9 hg19 chr13 50,234,859 50,265,599 30,741
ENST00000378284.6 hg19 chr13 50,234,859 50,265,599 30,741
ENST00000378270.5 hg19 chr13 50,234,970 50,265,593 30,624
ENST00000378268.1 hg19 chr13 50,242,306 50,265,599 23,294
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