RBM8A RNA binding motif protein 8A

Information
Symbol
RBM8A
Type
protein-coding
Description
RNA binding motif protein 8A
Entrez Gene ID
9939
Genome
hg19
Position
chr1:145,507,609-145,513,536
Genome
hg38
Position
chr1:145,921,556-145,927,484
MIM
605313 OMIM
HGNC
HGNC:9905 HGNC
Ensembl
ENSG00000265241 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 4
Benign 0 22
Likely benign 0 75
Conflicting classifications of pathogenicity 0 2
Conflicting classifications of pathogenicity; other 0 2
low penetrance 0 2
not provided 4 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
18
97
10
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 BOV-1A
SYNONYM BOV-1B
SYNONYM BOV-1C
SYNONYM C1DELq21.1
SYNONYM DEL1q21.1
SYNONYM MDS014
SYNONYM RBM8
SYNONYM RBM8B
SYNONYM TAR
SYNONYM Y14
SYNONYM ZNRP
SYNONYM ZRNP1
MIM 605313 OMIM
HGNC HGNC:9905 HGNC
Ensembl ENSG00000265241 Ensembl
AllianceGenome HGNC:9905
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000632555.1 hg38 chr1 145,921,632 145,927,447 5,816
ENST00000691760.1 hg38 chr1 145,921,556 145,927,476 5,921
ENST00000583313.7 hg38 chr1 145,921,556 145,927,484 5,929
ENST00000369307.4 hg38 chr1 145,925,642 145,927,460 1,819
ENST00000583313.7 hg19 chr1 145,507,609 145,513,536 5,928
ENST00000691760.1 hg19 chr1 145,507,617 145,513,536 5,920
ENST00000632555.1 hg19 chr1 145,507,646 145,513,460 5,815
ENST00000369307.4 hg19 chr1 145,507,633 145,509,451 1,819
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