RHBDF2 rhomboid 5 homolog 2

Information
Symbol
RHBDF2
Type
protein-coding
Description
rhomboid 5 homolog 2
Entrez Gene ID
79651
Genome
hg19
Position
chr17:74,466,978-74,497,489
Genome
hg38
Position
chr17:76,470,896-76,501,407
MIM
614404 OMIM
HGNC
HGNC:20788 HGNC
Ensembl
ENSG00000129667 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 132
Likely benign 3 108
Conflicting classifications of pathogenicity 0 52
Uncertain significance 16 340
Ranking
ClinVar
0
0
110
428
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
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 RHBDL5
SYNONYM RHBDL6
SYNONYM TOC
SYNONYM TOCG
SYNONYM iRhom2
MIM 614404 OMIM
HGNC HGNC:20788 HGNC
Ensembl ENSG00000129667 Ensembl
AllianceGenome HGNC:20788
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313080.8 hg38 chr17 76,470,896 76,501,407 30,512
ENST00000675367.1 hg38 chr17 76,470,896 76,501,423 30,528
ENST00000591885.5 hg38 chr17 76,471,069 76,501,790 30,722
ENST00000313080.8 hg19 chr17 74,466,978 74,497,489 30,512
ENST00000591885.5 hg19 chr17 74,467,151 74,497,872 30,722
ENST00000675367.1 hg19 chr17 74,466,978 74,497,505 30,528
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