MRPL23 mitochondrial ribosomal protein L23
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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32 |
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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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| 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 | L23MRP |
| SYNONYM | RPL23 |
| SYNONYM | RPL23L |
| SYNONYM | uL23m |
| MIM | 600789 OMIM |
| HGNC | HGNC:10322 HGNC |
| Ensembl | ENSG00000214026 Ensembl |
| AllianceGenome | HGNC:10322 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000381519.5 | hg38 | chr11 | 1,947,278 | 1,956,609 | 9,332 |
| ENST00000381514.7 | hg38 | chr11 | 1,947,341 | 1,962,838 | 15,498 |
| ENST00000397297.7 | hg38 | chr11 | 1,947,332 | 1,984,522 | 37,191 |
| ENST00000397298.8 | hg38 | chr11 | 1,947,332 | 1,956,600 | 9,269 |
| ENST00000397294.7 | hg38 | chr11 | 1,947,344 | 1,972,793 | 25,450 |
| ENST00000381519.5 | hg19 | chr11 | 1,968,508 | 1,977,839 | 9,332 |
| ENST00000397298.8 | hg19 | chr11 | 1,968,562 | 1,977,830 | 9,269 |
| ENST00000397297.7 | hg19 | chr11 | 1,968,562 | 2,005,752 | 37,191 |
| ENST00000381514.7 | hg19 | chr11 | 1,968,571 | 1,984,068 | 15,498 |
| ENST00000397294.7 | hg19 | chr11 | 1,968,574 | 1,994,023 | 25,450 |
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