MRPS17 mitochondrial ribosomal protein S17

Information
Symbol
MRPS17
Type
protein-coding
Description
mitochondrial ribosomal protein S17
Entrez Gene ID
51373
Genome
hg19
Position
chr7:56,019,570-56,024,193
Genome
hg38
Position
chr7:55,951,877-55,956,500
MIM
611980 OMIM
HGNC
HGNC:14047 HGNC
Ensembl
ENSG00000239789 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
16
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 HSPC011
SYNONYM MRP-S17
SYNONYM RPMS17
SYNONYM S17mt
SYNONYM uS17m
MIM 611980 OMIM
HGNC HGNC:14047 HGNC
Ensembl ENSG00000239789 Ensembl
AllianceGenome HGNC:14047
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000285298.9 hg38 chr7 55,951,877 55,956,500 4,624
ENST00000285298.9 hg19 chr7 56,019,570 56,024,193 4,624
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