RPS19 ribosomal protein S19
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 | |
---|---|
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0 |
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0 |
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63 |
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343 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | DBA |
SYNONYM | DBA1 |
SYNONYM | LOH19CR1 |
SYNONYM | S19 |
SYNONYM | eS19 |
MIM | 603474 OMIM |
HGNC | HGNC:10402 HGNC |
Ensembl | ENSG00000105372 Ensembl |
AllianceGenome | HGNC:10402 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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