RITA1 RBPJ interacting and tubulin associated 1

Information
Symbol
RITA1
Type
protein-coding
Description
RBPJ interacting and tubulin associated 1
Entrez Gene ID
84934
Genome
hg19
Position
chr12:113,623,347-113,630,166
Genome
hg38
Position
chr12:113,185,542-113,192,361
MIM
620696 OMIM
HGNC
HGNC:25925 HGNC
Ensembl
ENSG00000139405 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
22
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 :
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 C12orf52
SYNONYM RITA
MIM 620696 OMIM
HGNC HGNC:25925 HGNC
Ensembl ENSG00000139405 Ensembl
AllianceGenome HGNC:25925
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000549621.5 hg38 chr12 113,185,526 113,192,364 6,839
ENST00000548278.2 hg38 chr12 113,185,721 113,192,368 6,648
ENST00000552495.1 hg38 chr12 113,185,542 113,192,361 6,820
ENST00000549621.5 hg19 chr12 113,623,331 113,630,169 6,839
ENST00000552495.1 hg19 chr12 113,623,347 113,630,166 6,820
ENST00000548278.2 hg19 chr12 113,623,526 113,630,173 6,648
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