MRPL42 mitochondrial ribosomal protein L42
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
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 | HSPC204 |
| SYNONYM | L31MT |
| SYNONYM | L42MT |
| SYNONYM | MRP-L31 |
| SYNONYM | MRP-L42 |
| SYNONYM | MRP-S32 |
| SYNONYM | MRPL31 |
| SYNONYM | MRPS32 |
| SYNONYM | PTD007 |
| SYNONYM | RPML31 |
| SYNONYM | S32MT |
| SYNONYM | mL42 |
| MIM | 611847 OMIM |
| HGNC | HGNC:14493 HGNC |
| Ensembl | ENSG00000198015 Ensembl |
| AllianceGenome | HGNC:14493 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000393128.8 | hg38 | chr12 | 93,467,517 | 93,502,652 | 35,136 |
| ENST00000547098.5 | hg38 | chr12 | 93,467,518 | 93,488,472 | 20,955 |
| ENST00000549982.6 | hg38 | chr12 | 93,467,514 | 93,516,214 | 48,701 |
| ENST00000548545.1 | hg38 | chr12 | 93,469,214 | 93,487,897 | 18,684 |
| ENST00000552217.6 | hg38 | chr12 | 93,467,514 | 93,516,214 | 48,701 |
| ENST00000549982.6 | hg19 | chr12 | 93,861,290 | 93,909,990 | 48,701 |
| ENST00000552217.6 | hg19 | chr12 | 93,861,290 | 93,909,990 | 48,701 |
| ENST00000393128.8 | hg19 | chr12 | 93,861,293 | 93,896,428 | 35,136 |
| ENST00000547098.5 | hg19 | chr12 | 93,861,294 | 93,882,248 | 20,955 |
| ENST00000548545.1 | hg19 | chr12 | 93,862,990 | 93,881,673 | 18,684 |
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