MRPS18B mitochondrial ribosomal protein S18B

Information
Symbol
MRPS18B
Type
protein-coding
Description
mitochondrial ribosomal protein S18B
Entrez Gene ID
28973
Genome
hg19
Position
chr6:30,585,617-30,594,169
Genome
hg38
Position
chr6:30,617,840-30,626,392
MIM
611982 OMIM
HGNC
HGNC:14516 HGNC
Ensembl
ENSG00000204568 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 4 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
34
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
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 C6orf14
SYNONYM HSPC183
SYNONYM HumanS18a
SYNONYM MRP-S18-2
SYNONYM MRPS18-2
SYNONYM PTD017
SYNONYM S18amt
SYNONYM mS40
MIM 611982 OMIM
HGNC HGNC:14516 HGNC
Ensembl ENSG00000204568 Ensembl
AllianceGenome HGNC:14516
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000259873.5 hg38 chr6 30,617,840 30,626,392 8,553
ENST00000259873.5 hg19 chr6 30,585,617 30,594,169 8,553
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