RPL22 ribosomal protein L22
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 7 | 0 |
| Uncertain significance | 0 | 6 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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6 |
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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
Locus Zoom
Variants
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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 | |||||||||||
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| 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 | EAP |
| SYNONYM | HBP15 |
| SYNONYM | HBP15/L22 |
| SYNONYM | L22 |
| SYNONYM | eL22 |
| MIM | 180474 OMIM |
| HGNC | HGNC:10315 HGNC |
| Ensembl | ENSG00000116251 Ensembl |
| AllianceGenome | HGNC:10315 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000497965.5 | hg38 | chr1 | 6,186,615 | 6,200,842 | 14,228 |
| ENST00000234875.9 | hg38 | chr1 | 6,185,020 | 6,199,595 | 14,576 |
| ENST00000234875.9 | hg19 | chr1 | 6,245,080 | 6,259,655 | 14,576 |
| ENST00000497965.5 | hg19 | chr1 | 6,246,675 | 6,260,902 | 14,228 |
| Key | Value |
|---|---|
| strand | - |
| start | 6,245,079 |
| Gene Symbol | RPL22 |
| Entrez GeneId | 6,146 |
| Chr Band | 1p36.31 |
| end | 6,259,678 |
| chr | chr1 |
| Name | ribosomal protein L22 (EAP) |
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