MRPL49 mitochondrial ribosomal protein L49
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
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 | C11orf4 |
| SYNONYM | L49mt |
| SYNONYM | MRP-L49 |
| SYNONYM | NOF |
| SYNONYM | NOF1 |
| SYNONYM | mL49 |
| MIM | 606866 OMIM |
| HGNC | HGNC:1176 HGNC |
| Ensembl | ENSG00000149792 Ensembl |
| AllianceGenome | HGNC:1176 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000531705.1 | hg38 | chr11 | 65,122,336 | 65,127,250 | 4,915 |
| ENST00000526171.5 | hg38 | chr11 | 65,122,321 | 65,125,733 | 3,413 |
| ENST00000279242.7 | hg38 | chr11 | 65,122,321 | 65,127,371 | 5,051 |
| ENST00000534078.1 | hg38 | chr11 | 65,122,311 | 65,126,004 | 3,694 |
| ENST00000534078.1 | hg19 | chr11 | 64,889,783 | 64,893,476 | 3,694 |
| ENST00000526171.5 | hg19 | chr11 | 64,889,793 | 64,893,205 | 3,413 |
| ENST00000279242.7 | hg19 | chr11 | 64,889,793 | 64,894,843 | 5,051 |
| ENST00000531705.1 | hg19 | chr11 | 64,889,808 | 64,894,722 | 4,915 |
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