MRPS14 mitochondrial ribosomal protein S14

Information
Symbol
MRPS14
Type
protein-coding
Description
mitochondrial ribosomal protein S14
Entrez Gene ID
63931
Genome
hg19
Position
chr1:174,982,094-174,992,561
Genome
hg38
Position
chr1:175,012,958-175,023,425
MIM
611978 OMIM
HGNC
HGNC:14049 HGNC
Ensembl
ENSG00000120333 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 4
Likely benign 0 20
Uncertain significance 0 44
Ranking
ClinVar
0
0
8
60
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 COXPD38
SYNONYM DJ262D12.2
SYNONYM HSMRPS14
SYNONYM MRP-S14
SYNONYM S14mt
SYNONYM uS14m
MIM 611978 OMIM
HGNC HGNC:14049 HGNC
Ensembl ENSG00000120333 Ensembl
AllianceGenome HGNC:14049
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000476371.1 hg38 chr1 175,012,958 175,023,425 10,468
ENST00000476371.1 hg19 chr1 174,982,094 174,992,561 10,468
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