REPS2 RALBP1 associated Eps domain containing 2

Information
Symbol
REPS2
Type
protein-coding
Description
RALBP1 associated Eps domain containing 2
Entrez Gene ID
9185
Genome
hg19
Position
chrX:16,964,781-17,171,395
Genome
hg38
Position
chrX:16,946,658-17,153,272
MIM
300317 OMIM
HGNC
HGNC:9963 HGNC
Ensembl
ENSG00000169891 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 14
not provided 7 0
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
68
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
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 POB1
MIM 300317 OMIM
HGNC HGNC:9963 HGNC
Ensembl ENSG00000169891 Ensembl
AllianceGenome HGNC:9963
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357277.8 hg38 chrX 16,946,658 17,153,272 206,615
ENST00000303843.7 hg38 chrX 16,946,862 17,153,272 206,411
ENST00000357277.8 hg19 chrX 16,964,781 17,171,395 206,615
ENST00000303843.7 hg19 chrX 16,964,985 17,171,395 206,411
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