EFNB1 ephrin B1

Information
Symbol
EFNB1
Type
protein-coding
Description
ephrin B1
Entrez Gene ID
1947
Genome
hg19
Position
chrX:68,048,864-68,062,003
Genome
hg38
Position
chrX:68,829,021-68,842,160
MIM
300035 OMIM
HGNC
HGNC:3226 HGNC
Ensembl
ENSG00000090776 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 72
Likely pathogenic 0 30
Benign 0 18
Likely benign 0 52
Conflicting classifications of pathogenicity 0 10
not provided 6 0
Uncertain significance 0 104
Ranking
ClinVar
0
0
28
228
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CFND
SYNONYM CFNS
SYNONYM EFB1
SYNONYM EFL3
SYNONYM EPLG2
SYNONYM Elk-L
SYNONYM LERK2
MIM 300035 OMIM
HGNC HGNC:3226 HGNC
Ensembl ENSG00000090776 Ensembl
AllianceGenome HGNC:3226
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000204961.5 hg38 chrX 68,829,021 68,842,160 13,140
ENST00000204961.5 hg19 chrX 68,048,864 68,062,003 13,140
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