MRPL30 mitochondrial ribosomal protein L30

Information
Symbol
MRPL30
Type
protein-coding
Description
mitochondrial ribosomal protein L30
Entrez Gene ID
51263
Genome
hg19
Position
chr2:99,797,647-99,816,024
Genome
hg38
Position
chr2:99,181,184-99,199,561
MIM
611838 OMIM
HGNC
HGNC:14036 HGNC
Ensembl
ENSG00000185414 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
18
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 L28MT
SYNONYM L30MT
SYNONYM MRP-L28
SYNONYM MRP-L30
SYNONYM MRPL28
SYNONYM MRPL28M
SYNONYM RPML28
SYNONYM uL30m
MIM 611838 OMIM
HGNC HGNC:14036 HGNC
Ensembl ENSG00000185414 Ensembl
AllianceGenome HGNC:14036
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409145.5 hg38 chr2 99,181,186 99,195,089 13,904
ENST00000338148.8 hg38 chr2 99,181,184 99,199,561 18,378
ENST00000338148.8 hg19 chr2 99,797,647 99,816,024 18,378
ENST00000409145.5 hg19 chr2 99,797,649 99,811,552 13,904
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