RERE arginine-glutamic acid dipeptide repeats

Information
Symbol
RERE
Type
protein-coding
Description
arginine-glutamic acid dipeptide repeats
Entrez Gene ID
473
Genome
hg19
Position
chr1:8,412,457-8,877,524
Genome
hg38
Position
chr1:8,352,397-8,817,465
MIM
605226 OMIM
HGNC
HGNC:9965 HGNC
Ensembl
ENSG00000142599 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 42
Likely pathogenic 1 44
Benign 0 152
Likely benign 0 426
Conflicting classifications of pathogenicity 0 50
Uncertain significance 0 694
Ranking
ClinVar
0
0
206
1,088
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 ARG
SYNONYM ARP
SYNONYM ATN1L
SYNONYM DNB1
SYNONYM NEDBEH
MIM 605226 OMIM
HGNC HGNC:9965 HGNC
Ensembl ENSG00000142599 Ensembl
AllianceGenome HGNC:9965
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377464.5 hg38 chr1 8,352,406 8,525,939 173,534
ENST00000465125.2 hg38 chr1 8,352,410 8,424,234 71,825
ENST00000704049.1 hg38 chr1 8,437,966 8,525,977 88,012
ENST00000659924.1 hg38 chr1 8,436,770 8,817,271 380,502
ENST00000476556.5 hg38 chr1 8,354,093 8,423,666 69,574
ENST00000400908.7 hg38 chr1 8,352,404 8,817,640 465,237
ENST00000400907.6 hg38 chr1 8,353,943 8,656,371 302,429
ENST00000337907.7 hg38 chr1 8,352,397 8,817,465 465,069
ENST00000337907.7 hg19 chr1 8,412,457 8,877,524 465,068
ENST00000400908.7 hg19 chr1 8,412,464 8,877,699 465,236
ENST00000377464.5 hg19 chr1 8,412,466 8,585,998 173,533
ENST00000400907.6 hg19 chr1 8,414,003 8,716,430 302,428
ENST00000465125.2 hg19 chr1 8,412,470 8,484,294 71,825
ENST00000476556.5 hg19 chr1 8,414,153 8,483,726 69,574
ENST00000659924.1 hg19 chr1 8,496,830 8,877,330 380,501
ENST00000704049.1 hg19 chr1 8,498,026 8,586,036 88,011
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