RHBDL3 rhomboid like 3

Information
Symbol
RHBDL3
Type
protein-coding
Description
rhomboid like 3
Entrez Gene ID
162494
Genome
hg19
Position
chr17:30,592,851-30,651,678
Genome
hg38
Position
chr17:32,265,832-32,324,659
MIM
619017 OMIM
HGNC
HGNC:16502 HGNC
Ensembl
ENSG00000141314 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
0
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 :
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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 RHBDL4
SYNONYM VRHO
MIM 619017 OMIM
HGNC HGNC:16502 HGNC
Ensembl ENSG00000141314 Ensembl
AllianceGenome HGNC:16502
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000269051.9 hg38 chr17 32,265,832 32,324,659 58,828
ENST00000536287.2 hg38 chr17 32,267,804 32,324,656 56,853
ENST00000538145.5 hg38 chr17 32,266,177 32,321,363 55,187
ENST00000269051.9 hg19 chr17 30,592,851 30,651,678 58,828
ENST00000538145.5 hg19 chr17 30,593,196 30,648,382 55,187
ENST00000536287.2 hg19 chr17 30,594,823 30,651,675 56,853
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