MRPS23 mitochondrial ribosomal protein S23

Information
Symbol
MRPS23
Type
protein-coding
Description
mitochondrial ribosomal protein S23
Entrez Gene ID
51649
Genome
hg19
Position
chr17:55,912,142-55,927,405
Genome
hg38
Position
chr17:57,834,781-57,850,044
MIM
611985 OMIM
HGNC
HGNC:14509 HGNC
Ensembl
ENSG00000181610 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 2
Benign 0 10
Likely benign 0 48
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
14
84
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
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 CGI-138
SYNONYM COXPD46
SYNONYM HSPC329
SYNONYM MRP-S23
SYNONYM mS23
MIM 611985 OMIM
HGNC HGNC:14509 HGNC
Ensembl ENSG00000181610 Ensembl
AllianceGenome HGNC:14509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313608.13 hg38 chr17 57,834,781 57,850,044 15,264
ENST00000578444.1 hg38 chr17 57,840,800 57,850,044 9,245
ENST00000313608.13 hg19 chr17 55,912,142 55,927,405 15,264
ENST00000578444.1 hg19 chr17 55,918,161 55,927,405 9,245
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