MRPL54 mitochondrial ribosomal protein L54

Information
Symbol
MRPL54
Type
protein-coding
Description
mitochondrial ribosomal protein L54
Entrez Gene ID
116541
Genome
hg19
Position
chr19:3,762,680-3,767,563
Genome
hg38
Position
chr19:3,762,682-3,767,565
MIM
611858 OMIM
HGNC
HGNC:16685 HGNC
Ensembl
ENSG00000183617 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 20
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 L54mt
SYNONYM MRP-L54
SYNONYM mL54
MIM 611858 OMIM
HGNC HGNC:16685 HGNC
Ensembl ENSG00000183617 Ensembl
AllianceGenome HGNC:16685
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000330133.5 hg38 chr19 3,762,682 3,767,565 4,884
ENST00000330133.5 hg19 chr19 3,762,680 3,767,563 4,884
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