EHBP1L1 EH domain binding protein 1 like 1

Information
Symbol
EHBP1L1
Type
protein-coding
Description
EH domain binding protein 1 like 1
Entrez Gene ID
254102
Genome
hg19
Position
chr11:65,343,524-65,360,121
Genome
hg38
Position
chr11:65,576,053-65,592,650
MIM
619583 OMIM
HGNC
HGNC:30682 HGNC
Ensembl
ENSG00000173442 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 16
Uncertain significance 0 206
Ranking
ClinVar
0
0
4
216
4
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 619583 OMIM
HGNC HGNC:30682 HGNC
Ensembl ENSG00000173442 Ensembl
AllianceGenome HGNC:30682
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309295.9 hg38 chr11 65,576,053 65,592,650 16,598
ENST00000309295.9 hg19 chr11 65,343,524 65,360,121 16,598
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