RIBC1 RIB43A domain with coiled-coils 1

Information
Symbol
RIBC1
Type
protein-coding
Description
RIB43A domain with coiled-coils 1
Entrez Gene ID
158787
Genome
hg19
Position
chrX:53,449,822-53,458,063
Genome
hg38
Position
chrX:53,422,873-53,431,115
HGNC
HGNC:26537 HGNC
Ensembl
ENSG00000158423 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
not provided 6 0
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
40
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 2610028I09Rik
HGNC HGNC:26537 HGNC
Ensembl ENSG00000158423 Ensembl
AllianceGenome HGNC:26537
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375327.6 hg38 chrX 53,422,873 53,431,115 8,243
ENST00000457095.5 hg38 chrX 53,422,890 53,429,828 6,939
ENST00000414955.6 hg38 chrX 53,422,856 53,431,120 8,265
ENST00000414955.6 hg19 chrX 53,449,805 53,458,068 8,264
ENST00000375327.6 hg19 chrX 53,449,822 53,458,063 8,242
ENST00000457095.5 hg19 chrX 53,449,839 53,456,776 6,938
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