MRPS7 mitochondrial ribosomal protein S7
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 46 |
| Likely benign | 0 | 84 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
38 |
 |
140 |
 |
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 | COXPD34 |
| SYNONYM | MRP-S |
| SYNONYM | MRP-S7 |
| SYNONYM | RP-S7 |
| SYNONYM | RPMS7 |
| SYNONYM | S7mt |
| SYNONYM | bMRP27a |
| SYNONYM | uS7m |
| MIM | 611974 OMIM |
| HGNC | HGNC:14499 HGNC |
| Ensembl | ENSG00000125445 Ensembl |
| AllianceGenome | HGNC:14499 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000579002.5 | hg38 | chr17 | 75,261,912 | 75,266,330 | 4,419 |
| ENST00000245539.11 | hg38 | chr17 | 75,261,879 | 75,266,376 | 4,498 |
| ENST00000579761.5 | hg38 | chr17 | 75,261,674 | 75,264,490 | 2,817 |
| ENST00000579761.5 | hg19 | chr17 | 73,257,755 | 73,260,571 | 2,817 |
| ENST00000245539.11 | hg19 | chr17 | 73,257,960 | 73,262,457 | 4,498 |
| ENST00000579002.5 | hg19 | chr17 | 73,257,993 | 73,262,411 | 4,419 |
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