MRPL57 mitochondrial ribosomal protein L57

Information
Symbol
MRPL57
Type
protein-coding
Description
mitochondrial ribosomal protein L57
Entrez Gene ID
78988
Genome
hg19
Position
chr13:21,750,797-21,753,223
Genome
hg38
Position
chr13:21,176,658-21,179,084
MIM
611997 OMIM
HGNC
HGNC:14514 HGNC
Ensembl
ENSG00000173141 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
18
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 MRP63
SYNONYM bMRP63
SYNONYM mL63
MIM 611997 OMIM
HGNC HGNC:14514 HGNC
Ensembl ENSG00000173141 Ensembl
AllianceGenome HGNC:14514
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309594.5 hg38 chr13 21,176,658 21,179,084 2,427
ENST00000309594.5 hg19 chr13 21,750,797 21,753,223 2,427
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