EDNRB endothelin receptor type B

Information
Symbol
EDNRB
Type
protein-coding
Description
endothelin receptor type B
Entrez Gene ID
1910
Genome
hg19
Position
chr13:78,469,616-78,493,903
Genome
hg38
Position
chr13:77,895,481-77,919,768
MIM
131244 OMIM
HGNC
HGNC:3180 HGNC
Ensembl
ENSG00000136160 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 34
Likely pathogenic 0 36
Benign 0 38
Likely benign 0 120
Conflicting classifications of pathogenicity 0 34
risk factor 0 6
Uncertain significance 0 326
Ranking
ClinVar
0
0
68
464
14
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 ABCDS
SYNONYM ET-B
SYNONYM ET-BR
SYNONYM ETB
SYNONYM ETB1
SYNONYM ETBR
SYNONYM ETRB
SYNONYM HSCR
SYNONYM HSCR2
SYNONYM WS4A
MIM 131244 OMIM
HGNC HGNC:3180 HGNC
Ensembl ENSG00000136160 Ensembl
AllianceGenome HGNC:3180
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000475537.2 hg38 chr13 77,897,350 77,919,390 22,041
ENST00000377211.8 hg38 chr13 77,895,481 77,919,768 24,288
ENST00000646605.1 hg38 chr13 77,895,526 77,919,397 23,872
ENST00000646607.2 hg38 chr13 77,895,487 77,918,831 23,345
ENST00000646948.1 hg38 chr13 77,895,481 77,975,529 80,049
ENST00000626030.1 hg38 chr13 77,896,408 77,918,799 22,392
ENST00000643890.1 hg38 chr13 77,899,502 77,919,483 19,982
ENST00000377211.8 hg19 chr13 78,469,616 78,493,903 24,288
ENST00000646948.1 hg19 chr13 78,469,616 78,549,664 80,049
ENST00000646607.2 hg19 chr13 78,469,622 78,492,966 23,345
ENST00000646605.1 hg19 chr13 78,469,661 78,493,532 23,872
ENST00000626030.1 hg19 chr13 78,470,543 78,492,934 22,392
ENST00000475537.2 hg19 chr13 78,471,485 78,493,525 22,041
ENST00000643890.1 hg19 chr13 78,473,637 78,493,618 19,982
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