MRPL52 mitochondrial ribosomal protein L52

Information
Symbol
MRPL52
Type
protein-coding
Description
mitochondrial ribosomal protein L52
Entrez Gene ID
122704
Genome
hg19
Position
chr14:23,299,092-23,304,246
Genome
hg38
Position
chr14:22,829,883-22,835,037
MIM
611856 OMIM
HGNC
HGNC:16655 HGNC
Ensembl
ENSG00000172590 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
6
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 mL52
MIM 611856 OMIM
HGNC HGNC:16655 HGNC
Ensembl ENSG00000172590 Ensembl
AllianceGenome HGNC:16655
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000556840.5 hg38 chr14 22,829,921 22,834,347 4,427
ENST00000432849.7 hg38 chr14 22,829,903 22,834,346 4,444
ENST00000397505.2 hg38 chr14 22,829,913 22,834,347 4,435
ENST00000557221.1 hg38 chr14 22,829,914 22,834,828 4,915
ENST00000555345.5 hg38 chr14 22,829,895 22,834,717 4,823
ENST00000555536.1 hg38 chr14 22,830,049 22,834,346 4,298
ENST00000553711.5 hg38 chr14 22,829,906 22,834,345 4,440
ENST00000397496.7 hg38 chr14 22,829,887 22,835,037 5,151
ENST00000355151.9 hg38 chr14 22,829,883 22,835,037 5,155
ENST00000355151.9 hg19 chr14 23,299,092 23,304,246 5,155
ENST00000553711.5 hg19 chr14 23,299,115 23,303,554 4,440
ENST00000397496.7 hg19 chr14 23,299,096 23,304,246 5,151
ENST00000397505.2 hg19 chr14 23,299,122 23,303,556 4,435
ENST00000432849.7 hg19 chr14 23,299,112 23,303,555 4,444
ENST00000555345.5 hg19 chr14 23,299,104 23,303,926 4,823
ENST00000557221.1 hg19 chr14 23,299,123 23,304,037 4,915
ENST00000556840.5 hg19 chr14 23,299,130 23,303,556 4,427
ENST00000555536.1 hg19 chr14 23,299,258 23,303,555 4,298
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