MRPL34 mitochondrial ribosomal protein L34

Information
Symbol
MRPL34
Type
protein-coding
Description
mitochondrial ribosomal protein L34
Entrez Gene ID
64981
Genome
hg19
Position
chr19:17,403,442-17,417,352
Genome
hg38
Position
chr19:17,292,633-17,306,543
MIM
611840 OMIM
HGNC
HGNC:14488 HGNC
Ensembl
ENSG00000130312 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
66
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 L34mt
SYNONYM bL34m
MIM 611840 OMIM
HGNC HGNC:14488 HGNC
Ensembl ENSG00000130312 Ensembl
AllianceGenome HGNC:14488
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000594999.1 hg38 chr19 17,302,867 17,306,525 3,659
ENST00000595444.1 hg38 chr19 17,292,609 17,306,655 14,047
ENST00000252602.2 hg38 chr19 17,305,872 17,306,843 972
ENST00000602206.1 hg38 chr19 17,305,872 17,306,782 911
ENST00000600434.5 hg38 chr19 17,292,633 17,306,543 13,911
ENST00000595444.1 hg19 chr19 17,403,418 17,417,464 14,047
ENST00000600434.5 hg19 chr19 17,403,442 17,417,352 13,911
ENST00000594999.1 hg19 chr19 17,413,676 17,417,334 3,659
ENST00000602206.1 hg19 chr19 17,416,681 17,417,591 911
ENST00000252602.2 hg19 chr19 17,416,681 17,417,652 972
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