RHBDL1 rhomboid like 1

Information
Symbol
RHBDL1
Type
protein-coding
Description
rhomboid like 1
Entrez Gene ID
9028
Genome
hg19
Position
chr16:726,075-728,268
Genome
hg38
Position
chr16:676,075-678,268
MIM
603264 OMIM
HGNC
HGNC:10007 HGNC
Ensembl
ENSG00000103269 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Ranking
ClinVar
0
0
0
0
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 :
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 RHBDL
SYNONYM RRP
MIM 603264 OMIM
HGNC HGNC:10007 HGNC
Ensembl ENSG00000103269 Ensembl
AllianceGenome HGNC:10007
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000352681.8 hg38 chr16 675,671 678,268 2,598
ENST00000219551.2 hg38 chr16 676,075 678,268 2,194
ENST00000352681.8 hg19 chr16 725,671 728,268 2,598
ENST00000219551.2 hg19 chr16 726,075 728,268 2,194
Genome browser