RPL18 ribosomal protein L18
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 30 |
| Likely benign | 0 | 72 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
20 |
 |
142 |
 |
2 |
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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| Category | : |
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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 | DBA18 |
| SYNONYM | L18 |
| SYNONYM | eL18 |
| MIM | 604179 OMIM |
| HGNC | HGNC:10310 HGNC |
| Ensembl | ENSG00000063177 Ensembl |
| AllianceGenome | HGNC:10310 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000552588.5 | hg38 | chr19 | 48,615,331 | 48,619,181 | 3,851 |
| ENST00000549920.6 | hg38 | chr19 | 48,615,331 | 48,619,178 | 3,848 |
| ENST00000549273.5 | hg38 | chr19 | 48,615,366 | 48,619,177 | 3,812 |
| ENST00000550645.5 | hg38 | chr19 | 48,615,331 | 48,619,163 | 3,833 |
| ENST00000550645.5 | hg19 | chr19 | 49,118,588 | 49,122,420 | 3,833 |
| ENST00000549920.6 | hg19 | chr19 | 49,118,588 | 49,122,435 | 3,848 |
| ENST00000552588.5 | hg19 | chr19 | 49,118,588 | 49,122,438 | 3,851 |
| ENST00000549273.5 | hg19 | chr19 | 49,118,623 | 49,122,434 | 3,812 |
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