RPS7 ribosomal protein S7
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 5 | 12 |
| Likely pathogenic | 0 | 8 |
| Benign | 4 | 56 |
| Likely benign | 0 | 148 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 126 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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44 |
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292 |
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6 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DBA8 |
| SYNONYM | S7 |
| SYNONYM | eS7 |
| MIM | 603658 OMIM |
| HGNC | HGNC:10440 HGNC |
| Ensembl | ENSG00000171863 Ensembl |
| AllianceGenome | HGNC:10440 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000645674.2 | hg38 | chr2 | 3,575,260 | 3,580,920 | 5,661 |
| ENST00000646909.1 | hg38 | chr2 | 3,575,316 | 3,580,919 | 5,604 |
| ENST00000403564.5 | hg38 | chr2 | 3,575,325 | 3,580,919 | 5,595 |
| ENST00000462576.5 | hg38 | chr2 | 3,575,325 | 3,580,919 | 5,595 |
| ENST00000407445.8 | hg38 | chr2 | 3,575,345 | 3,580,475 | 5,131 |
| ENST00000406376.1 | hg38 | chr2 | 3,575,358 | 3,580,901 | 5,544 |
| ENST00000645674.2 | hg19 | chr2 | 3,622,850 | 3,628,510 | 5,661 |
| ENST00000646909.1 | hg19 | chr2 | 3,622,906 | 3,628,509 | 5,604 |
| ENST00000462576.5 | hg19 | chr2 | 3,622,915 | 3,628,509 | 5,595 |
| ENST00000403564.5 | hg19 | chr2 | 3,622,915 | 3,628,509 | 5,595 |
| ENST00000407445.8 | hg19 | chr2 | 3,622,935 | 3,628,065 | 5,131 |
| ENST00000406376.1 | hg19 | chr2 | 3,622,948 | 3,628,491 | 5,544 |
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