MRPL50 mitochondrial ribosomal protein L50

Information
Symbol
MRPL50
Type
protein-coding
Description
mitochondrial ribosomal protein L50
Entrez Gene ID
54534
Genome
hg19
Position
chr9:104,149,915-104,160,900
Genome
hg38
Position
chr9:101,387,633-101,398,618
MIM
611854 OMIM
HGNC
HGNC:16654 HGNC
Ensembl
ENSG00000136897 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 4
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
22
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-L50
SYNONYM mL50
MIM 611854 OMIM
HGNC HGNC:16654 HGNC
Ensembl ENSG00000136897 Ensembl
AllianceGenome HGNC:16654
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374865.5 hg38 chr9 101,387,633 101,398,618 10,986
ENST00000374865.5 hg19 chr9 104,149,915 104,160,900 10,986
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