MRPL51 mitochondrial ribosomal protein L51
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
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 | CDA09 |
| SYNONYM | HSPC241 |
| SYNONYM | MRP64 |
| SYNONYM | bMRP64 |
| SYNONYM | mL51 |
| MIM | 611855 OMIM |
| HGNC | HGNC:14044 HGNC |
| Ensembl | ENSG00000111639 Ensembl |
| AllianceGenome | HGNC:14044 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000229238.5 | hg38 | chr12 | 6,491,886 | 6,493,262 | 1,377 |
| ENST00000538814.5 | hg38 | chr12 | 6,492,152 | 6,493,046 | 895 |
| ENST00000543703.1 | hg38 | chr12 | 6,492,151 | 6,493,840 | 1,690 |
| ENST00000537701.5 | hg38 | chr12 | 6,492,103 | 6,493,841 | 1,739 |
| ENST00000543959.5 | hg38 | chr12 | 6,492,152 | 6,493,718 | 1,567 |
| ENST00000543164.5 | hg38 | chr12 | 6,492,147 | 6,493,840 | 1,694 |
| ENST00000229238.5 | hg19 | chr12 | 6,601,052 | 6,602,428 | 1,377 |
| ENST00000537701.5 | hg19 | chr12 | 6,601,269 | 6,603,007 | 1,739 |
| ENST00000543164.5 | hg19 | chr12 | 6,601,313 | 6,603,006 | 1,694 |
| ENST00000543703.1 | hg19 | chr12 | 6,601,317 | 6,603,006 | 1,690 |
| ENST00000538814.5 | hg19 | chr12 | 6,601,318 | 6,602,212 | 895 |
| ENST00000543959.5 | hg19 | chr12 | 6,601,318 | 6,602,884 | 1,567 |
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