MRPL53 mitochondrial ribosomal protein L53

Information
Symbol
MRPL53
Type
protein-coding
Description
mitochondrial ribosomal protein L53
Entrez Gene ID
116540
Genome
hg19
Position
chr2:74,699,109-74,699,807
Genome
hg38
Position
chr2:74,471,982-74,472,680
MIM
611857 OMIM
HGNC
HGNC:16684 HGNC
Ensembl
ENSG00000204822 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
20
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 L53MT
SYNONYM mL53
MIM 611857 OMIM
HGNC HGNC:16684 HGNC
Ensembl ENSG00000204822 Ensembl
AllianceGenome HGNC:16684
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258105.8 hg38 chr2 74,471,982 74,472,680 699
ENST00000409710.1 hg38 chr2 74,471,986 74,472,687 702
ENST00000258105.8 hg19 chr2 74,699,109 74,699,807 699
ENST00000409710.1 hg19 chr2 74,699,113 74,699,814 702
Genome browser