UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Information
- Symbol
- UQCRFS1
- Type
- protein-coding
- Description
- ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
- Entrez Gene ID
- 7386
- Genome
- hg19
- Position
- chr19:29,696,227-29,704,058
- Genome
- hg38
- Position
- chr19:29,205,320-29,213,151
- MIM
- 191327 OMIM
- HGNC
- HGNC:12587 HGNC
- Ensembl
- ENSG00000169021 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Benign | 0 | 6 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
34 |
 |
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
|
| 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 | MC3DN10 |
| SYNONYM | RIP1 |
| SYNONYM | RIS1 |
| SYNONYM | RISP |
| SYNONYM | UQCR5 |
| MIM | 191327 OMIM |
| HGNC | HGNC:12587 HGNC |
| Ensembl | ENSG00000169021 Ensembl |
| AllianceGenome | HGNC:12587 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000304863.6 | hg38 | chr19 | 29,205,320 | 29,213,151 | 7,832 |
| ENST00000304863.6 | hg19 | chr19 | 29,696,227 | 29,704,058 | 7,832 |
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