MRPL12 mitochondrial ribosomal protein L12

Information
Symbol
MRPL12
Type
protein-coding
Description
mitochondrial ribosomal protein L12
Entrez Gene ID
6182
Genome
hg19
Position
chr17:79,670,397-79,674,547
Genome
hg38
Position
chr17:81,703,367-81,707,517
MIM
602375 OMIM
HGNC
HGNC:10378 HGNC
Ensembl
ENSG00000262814 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 24
Likely benign 0 80
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 72
Ranking
ClinVar
0
0
32
140
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 5c5-2
SYNONYM L12mt
SYNONYM MRP-L31/34
SYNONYM MRPL7
SYNONYM MRPL7/L12
SYNONYM RPML12
SYNONYM bL12m
MIM 602375 OMIM
HGNC HGNC:10378 HGNC
Ensembl ENSG00000262814 Ensembl
AllianceGenome HGNC:10378
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333676.8 hg38 chr17 81,703,367 81,707,517 4,151
ENST00000333676.8 hg19 chr17 79,670,397 79,674,547 4,151
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