MRPL46 mitochondrial ribosomal protein L46

Information
Symbol
MRPL46
Type
protein-coding
Description
mitochondrial ribosomal protein L46
Entrez Gene ID
26589
Genome
hg19
Position
chr15:89,002,709-89,010,619
Genome
hg38
Position
chr15:88,459,478-88,467,388
MIM
611851 OMIM
HGNC
HGNC:1192 HGNC
Ensembl
ENSG00000259494 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
56
2
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 C15orf4
SYNONYM LIECG2
SYNONYM P2ECSL
SYNONYM mL46
MIM 611851 OMIM
HGNC HGNC:1192 HGNC
Ensembl ENSG00000259494 Ensembl
AllianceGenome HGNC:1192
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312475.5 hg38 chr15 88,459,478 88,467,388 7,911
ENST00000558531.1 hg38 chr15 88,465,013 88,467,390 2,378
ENST00000312475.5 hg19 chr15 89,002,709 89,010,619 7,911
ENST00000558531.1 hg19 chr15 89,008,244 89,010,621 2,378
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