MRPS18A mitochondrial ribosomal protein S18A

Information
Symbol
MRPS18A
Type
protein-coding
Description
mitochondrial ribosomal protein S18A
Entrez Gene ID
55168
Genome
hg19
Position
chr6:43,638,939-43,655,528
Genome
hg38
Position
chr6:43,671,202-43,687,791
MIM
611981 OMIM
HGNC
HGNC:14515 HGNC
Ensembl
ENSG00000096080 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
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 HumanS18b
SYNONYM MRP-S18-3
SYNONYM MRP-S18-a
SYNONYM MRPS18-3
SYNONYM S18bmt
SYNONYM S18mt-a
SYNONYM mL66
MIM 611981 OMIM
HGNC HGNC:14515 HGNC
Ensembl ENSG00000096080 Ensembl
AllianceGenome HGNC:14515
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372133.8 hg38 chr6 43,671,202 43,687,791 16,590
ENST00000372116.5 hg38 chr6 43,671,510 43,687,791 16,282
ENST00000372133.8 hg19 chr6 43,638,939 43,655,528 16,590
ENST00000372116.5 hg19 chr6 43,639,247 43,655,528 16,282
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