RIPPLY3 ripply transcriptional repressor 3

Information
Symbol
RIPPLY3
Type
protein-coding
Description
ripply transcriptional repressor 3
Entrez Gene ID
53820
Genome
hg19
Position
chr21:38,379,002-38,391,962
Genome
hg38
Position
chr21:37,006,702-37,019,662
MIM
609892 OMIM
HGNC
HGNC:3047 HGNC
Ensembl
ENSG00000183145 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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 DSCR6
MIM 609892 OMIM
HGNC HGNC:3047 HGNC
Ensembl ENSG00000183145 Ensembl
AllianceGenome HGNC:3047
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000329553.3 hg38 chr21 37,006,702 37,019,662 12,961
ENST00000329553.3 hg19 chr21 38,379,002 38,391,962 12,961
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