MRPS30 mitochondrial ribosomal protein S30

Information
Symbol
MRPS30
Type
protein-coding
Description
mitochondrial ribosomal protein S30
Entrez Gene ID
10884
Genome
hg19
Position
chr5:44,809,049-44,815,616
Genome
hg38
Position
chr5:44,808,947-44,815,514
MIM
611991 OMIM
HGNC
HGNC:8769 HGNC
Ensembl
ENSG00000112996 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 0 2
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
46
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 MRP-S30
SYNONYM PAP
SYNONYM PDCD9
SYNONYM S30mt
SYNONYM mL65
MIM 611991 OMIM
HGNC HGNC:8769 HGNC
Ensembl ENSG00000112996 Ensembl
AllianceGenome HGNC:8769
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000507110.6 hg38 chr5 44,808,947 44,815,514 6,568
ENST00000507110.6 hg19 chr5 44,809,049 44,815,616 6,568
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