RPS19 ribosomal protein S19

Information
Symbol
RPS19
Type
protein-coding
Description
ribosomal protein S19
Entrez Gene ID
6223
Genome
hg19
Position
chr19:42,364,325-42,376,993
Genome
hg38
Position
chr19:41,860,255-41,872,925
MIM
603474 OMIM
HGNC
HGNC:10402 HGNC
Ensembl
ENSG00000105372 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 90
Likely pathogenic 0 44
Benign 0 24
Likely benign 0 130
Conflicting classifications of pathogenicity 0 16
no classification for the single variant 0 2
not provided 1 0
Uncertain significance 0 132
Ranking
ClinVar
0
0
63
343
8
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 DBA
SYNONYM DBA1
SYNONYM LOH19CR1
SYNONYM S19
SYNONYM eS19
MIM 603474 OMIM
HGNC HGNC:10402 HGNC
Ensembl ENSG00000105372 Ensembl
AllianceGenome HGNC:10402
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000593863.5 hg38 chr19 41,860,446 41,871,416 10,971
ENST00000598742.6 hg38 chr19 41,860,255 41,872,925 12,671
ENST00000221975.6 hg38 chr19 41,860,257 41,871,416 11,160
ENST00000600467.6 hg38 chr19 41,860,255 41,871,416 11,162
ENST00000600467.6 hg19 chr19 42,364,325 42,375,484 11,160
ENST00000598742.6 hg19 chr19 42,364,325 42,376,993 12,669
ENST00000221975.6 hg19 chr19 42,364,327 42,375,484 11,158
ENST00000593863.5 hg19 chr19 42,364,516 42,375,484 10,969
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