MRPL48 mitochondrial ribosomal protein L48

Information
Symbol
MRPL48
Type
protein-coding
Description
mitochondrial ribosomal protein L48
Entrez Gene ID
51642
Genome
hg19
Position
chr11:73,498,919-73,576,178
Genome
hg38
Position
chr11:73,787,874-73,865,133
MIM
611853 OMIM
HGNC
HGNC:16653 HGNC
Ensembl
ENSG00000175581 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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 CGI-118
SYNONYM HSPC290
SYNONYM L48MT
SYNONYM MRP-L48
SYNONYM mL48
MIM 611853 OMIM
HGNC HGNC:16653 HGNC
Ensembl ENSG00000175581 Ensembl
AllianceGenome HGNC:16653
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000314282.7 hg38 chr11 73,842,113 73,864,599 22,487
ENST00000411840.6 hg38 chr11 73,787,895 73,864,598 76,704
ENST00000398483.7 hg38 chr11 73,787,906 73,864,605 76,700
ENST00000310614.12 hg38 chr11 73,787,874 73,865,133 77,260
ENST00000542303.5 hg38 chr11 73,787,909 73,864,602 76,694
ENST00000310614.12 hg19 chr11 73,498,919 73,576,178 77,260
ENST00000411840.6 hg19 chr11 73,498,940 73,575,643 76,704
ENST00000398483.7 hg19 chr11 73,498,951 73,575,650 76,700
ENST00000542303.5 hg19 chr11 73,498,954 73,575,647 76,694
ENST00000314282.7 hg19 chr11 73,553,158 73,575,644 22,487
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