RPS27 ribosomal protein S27

Information
Symbol
RPS27
Type
protein-coding
Description
ribosomal protein S27
Entrez Gene ID
6232
Genome
hg19
Position
chr1:153,963,238-153,964,631
Genome
hg38
Position
chr1:153,990,762-153,992,155
MIM
603702 OMIM
HGNC
HGNC:10416 HGNC
Ensembl
ENSG00000177954 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 12
Likely benign 0 18
Uncertain significance 0 30
Ranking
ClinVar
0
0
6
52
2
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 DBA17
SYNONYM MPS-1
SYNONYM MPS1
SYNONYM S27
SYNONYM eS27
MIM 603702 OMIM
HGNC HGNC:10416 HGNC
Ensembl ENSG00000177954 Ensembl
AllianceGenome HGNC:10416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651669.1 hg38 chr1 153,990,762 153,992,155 1,394
ENST00000651669.1 hg19 chr1 153,963,238 153,964,631 1,394
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