RPS2 ribosomal protein S2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 8 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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14 |
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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
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| 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
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| 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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | LLREP3 |
| SYNONYM | S2 |
| SYNONYM | uS5 |
| MIM | 603624 OMIM |
| HGNC | HGNC:10404 HGNC |
| Ensembl | ENSG00000140988 Ensembl |
| AllianceGenome | HGNC:10404 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000530225.5 | hg38 | chr16 | 1,962,061 | 1,964,631 | 2,571 |
| ENST00000343262.9 | hg38 | chr16 | 1,962,058 | 1,964,826 | 2,769 |
| ENST00000529806.5 | hg38 | chr16 | 1,962,079 | 1,964,812 | 2,734 |
| ENST00000526522.5 | hg38 | chr16 | 1,962,060 | 1,964,803 | 2,744 |
| ENST00000343262.9 | hg19 | chr16 | 2,012,059 | 2,014,827 | 2,769 |
| ENST00000526522.5 | hg19 | chr16 | 2,012,061 | 2,014,804 | 2,744 |
| ENST00000530225.5 | hg19 | chr16 | 2,012,062 | 2,014,632 | 2,571 |
| ENST00000529806.5 | hg19 | chr16 | 2,012,080 | 2,014,813 | 2,734 |
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