RPL31 ribosomal protein L31
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 0 |
| Benign | 0 | 30 |
| Likely benign | 0 | 34 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 56 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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12 |
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108 |
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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
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 | L31 |
| SYNONYM | eL31 |
| MIM | 617415 OMIM |
| HGNC | HGNC:10334 HGNC |
| Ensembl | ENSG00000071082 Ensembl |
| AllianceGenome | HGNC:10334 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409000.5 | hg38 | chr2 | 101,002,229 | 101,004,604 | 2,376 |
| ENST00000409733.5 | hg38 | chr2 | 101,002,293 | 101,006,419 | 4,127 |
| ENST00000409028.8 | hg38 | chr2 | 101,002,283 | 101,019,728 | 17,446 |
| ENST00000264258.8 | hg38 | chr2 | 101,002,289 | 101,007,267 | 4,979 |
| ENST00000409038.5 | hg38 | chr2 | 101,002,293 | 101,018,306 | 16,014 |
| ENST00000409711.1 | hg38 | chr2 | 101,002,691 | 101,006,367 | 3,677 |
| ENST00000409320.7 | hg38 | chr2 | 101,002,293 | 101,006,418 | 4,126 |
| ENST00000409650.5 | hg38 | chr2 | 101,002,293 | 101,018,289 | 15,997 |
| ENST00000409000.5 | hg19 | chr2 | 101,618,691 | 101,621,066 | 2,376 |
| ENST00000409028.8 | hg19 | chr2 | 101,618,745 | 101,636,190 | 17,446 |
| ENST00000264258.8 | hg19 | chr2 | 101,618,751 | 101,623,729 | 4,979 |
| ENST00000409320.7 | hg19 | chr2 | 101,618,755 | 101,622,880 | 4,126 |
| ENST00000409733.5 | hg19 | chr2 | 101,618,755 | 101,622,881 | 4,127 |
| ENST00000409650.5 | hg19 | chr2 | 101,618,755 | 101,634,751 | 15,997 |
| ENST00000409038.5 | hg19 | chr2 | 101,618,755 | 101,634,768 | 16,014 |
| ENST00000409711.1 | hg19 | chr2 | 101,619,153 | 101,622,829 | 3,677 |
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