RBM48 RNA binding motif protein 48

Information
Symbol
RBM48
Type
protein-coding
Description
RNA binding motif protein 48
Entrez Gene ID
84060
Genome
hg19
Position
chr7:92,158,109-92,169,795
Genome
hg38
Position
chr7:92,528,795-92,540,481
HGNC
HGNC:21785 HGNC
Ensembl
ENSG00000127993 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 32
Likely benign 0 14
Uncertain significance 0 64
Ranking
ClinVar
0
0
12
94
2
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 C7orf64
SYNONYM HSPC304
HGNC HGNC:21785 HGNC
Ensembl ENSG00000127993 Ensembl
AllianceGenome HGNC:21785
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000481551.5 hg38 chr7 92,528,773 92,538,005 9,233
ENST00000265732.10 hg38 chr7 92,528,795 92,540,481 11,687
ENST00000481551.5 hg19 chr7 92,158,087 92,167,319 9,233
ENST00000265732.10 hg19 chr7 92,158,109 92,169,795 11,687
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