RPTN repetin

Information
Symbol
RPTN
Type
protein-coding
Description
repetin
Entrez Gene ID
126638
Genome
hg19
Position
chr1:152,126,071-152,131,704
Genome
hg38
Position
chr1:152,153,595-152,159,228
MIM
613259 OMIM
HGNC
HGNC:26809 HGNC
Ensembl
ENSG00000215853 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 22
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
100
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
MIM 613259 OMIM
HGNC HGNC:26809 HGNC
Ensembl ENSG00000215853 Ensembl
AllianceGenome HGNC:26809
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316073.3 hg38 chr1 152,153,595 152,159,228 5,634
ENST00000316073.3 hg19 chr1 152,126,071 152,131,704 5,634
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