RHBDD1 rhomboid domain containing 1

Information
Symbol
RHBDD1
Type
protein-coding
Description
rhomboid domain containing 1
Entrez Gene ID
84236
Genome
hg19
Position
chr2:227,700,770-227,863,926
Genome
hg38
Position
chr2:226,836,054-226,999,210
MIM
617515 OMIM
HGNC
HGNC:23081 HGNC
Ensembl
ENSG00000144468 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
34
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 :
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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 RRP4
MIM 617515 OMIM
HGNC HGNC:23081 HGNC
Ensembl ENSG00000144468 Ensembl
AllianceGenome HGNC:23081
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000341329.7 hg38 chr2 226,835,936 226,999,215 163,280
ENST00000392062.7 hg38 chr2 226,836,054 226,999,210 163,157
ENST00000409053.1 hg38 chr2 226,906,712 226,988,498 81,787
ENST00000341329.7 hg19 chr2 227,700,652 227,863,931 163,280
ENST00000392062.7 hg19 chr2 227,700,770 227,863,926 163,157
ENST00000409053.1 hg19 chr2 227,771,428 227,853,214 81,787
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