RHOBTB2 Rho related BTB domain containing 2

Information
Symbol
RHOBTB2
Type
protein-coding
Description
Rho related BTB domain containing 2
Entrez Gene ID
23221
Genome
hg19
Position
chr8:22,844,930-22,875,954
Genome
hg38
Position
chr8:22,987,417-23,018,441
MIM
607352 OMIM
HGNC
HGNC:18756 HGNC
Ensembl
ENSG00000008853 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 10
Likely pathogenic 1 18
Benign 0 184
Likely benign 0 594
Conflicting classifications of pathogenicity 0 64
not provided 0 2
Uncertain significance 0 488
Ranking
ClinVar
0
0
140
1,114
2
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 DBC2
SYNONYM DEE64
SYNONYM EIEE64
SYNONYM p83
MIM 607352 OMIM
HGNC HGNC:18756 HGNC
Ensembl ENSG00000008853 Ensembl
AllianceGenome HGNC:18756
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000519685.5 hg38 chr8 22,987,417 23,018,441 31,025
ENST00000692529.1 hg38 chr8 22,996,773 23,020,509 23,737
ENST00000251822.7 hg38 chr8 22,999,548 23,020,199 20,652
ENST00000522948.5 hg38 chr8 22,995,841 23,020,192 24,352
ENST00000519685.5 hg19 chr8 22,844,930 22,875,954 31,025
ENST00000522948.5 hg19 chr8 22,853,354 22,877,705 24,352
ENST00000692529.1 hg19 chr8 22,854,286 22,878,022 23,737
ENST00000251822.7 hg19 chr8 22,857,061 22,877,712 20,652
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