MRPL27 mitochondrial ribosomal protein L27
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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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| Search word | : | |
| 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 | L27mt |
| SYNONYM | bL27m |
| MIM | 611837 OMIM |
| HGNC | HGNC:14483 HGNC |
| Ensembl | ENSG00000108826 Ensembl |
| AllianceGenome | HGNC:14483 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000511860.1 | hg38 | chr17 | 50,367,888 | 50,371,163 | 3,276 |
| ENST00000225969.9 | hg38 | chr17 | 50,367,867 | 50,373,184 | 5,318 |
| ENST00000442592.3 | hg38 | chr17 | 50,367,868 | 50,373,207 | 5,340 |
| ENST00000503633.5 | hg38 | chr17 | 50,367,868 | 50,373,196 | 5,329 |
| ENST00000507088.5 | hg38 | chr17 | 50,367,857 | 50,372,960 | 5,104 |
| ENST00000507088.5 | hg19 | chr17 | 48,445,218 | 48,450,321 | 5,104 |
| ENST00000225969.9 | hg19 | chr17 | 48,445,228 | 48,450,545 | 5,318 |
| ENST00000503633.5 | hg19 | chr17 | 48,445,229 | 48,450,557 | 5,329 |
| ENST00000442592.3 | hg19 | chr17 | 48,445,229 | 48,450,568 | 5,340 |
| ENST00000511860.1 | hg19 | chr17 | 48,445,249 | 48,448,524 | 3,276 |
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