RIMBP3 RIMS binding protein 3

Information
Symbol
RIMBP3
Type
protein-coding
Description
RIMS binding protein 3
Entrez Gene ID
85376
Genome
hg19
Position
chr22:20,455,682-20,461,786
Genome
hg38
Position
chr22:18,605,815-18,611,919
MIM
612699 OMIM
HGNC
HGNC:29344 HGNC
Ensembl
ENSG00000275793 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 34
not provided 4 0
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
152
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
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 RIM-BP3
SYNONYM RIM-BP3.1
SYNONYM RIM-BP3.A
SYNONYM RIMBP3.1
SYNONYM RIMBP3A
MIM 612699 OMIM
HGNC HGNC:29344 HGNC
Ensembl ENSG00000275793 Ensembl
AllianceGenome HGNC:29344
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000619918.1 hg38 chr22 18,605,815 18,611,919 6,105
ENST00000619918.1 hg19 chr22 20,455,682 20,461,786 6,105
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