RAG1 recombination activating 1

Information
Symbol
RAG1
Type
protein-coding
Description
recombination activating 1
Entrez Gene ID
5896
Genome
hg19
Position
chr11:36,531,953-36,601,312
Genome
hg38
Position
chr11:36,510,403-36,579,762
MIM
179615 OMIM
HGNC
HGNC:9831 HGNC
Ensembl
ENSG00000166349 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 24 218
Likely pathogenic 6 138
Benign 0 56
Likely benign 0 556
Conflicting classifications of pathogenicity 0 46
no classification for the single variant 0 8
not provided 1 10
Uncertain significance 6 676
Ranking
ClinVar
0
54
226
1,268
14
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 RAG-1
SYNONYM RNF74
MIM 179615 OMIM
HGNC HGNC:9831 HGNC
Ensembl ENSG00000166349 Ensembl
AllianceGenome HGNC:9831
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000697715.1 hg38 chr11 36,510,403 36,579,762 69,360
ENST00000697714.1 hg38 chr11 36,510,372 36,579,762 69,391
ENST00000697713.1 hg38 chr11 36,510,372 36,579,762 69,391
ENST00000299440.6 hg38 chr11 36,568,007 36,579,762 11,756
ENST00000697713.1 hg19 chr11 36,531,922 36,601,312 69,391
ENST00000697714.1 hg19 chr11 36,531,922 36,601,312 69,391
ENST00000697715.1 hg19 chr11 36,531,953 36,601,312 69,360
ENST00000299440.6 hg19 chr11 36,589,557 36,601,312 11,756
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