UQCRC1 ubiquinol-cytochrome c reductase core protein 1
Information
- Symbol
- UQCRC1
- Type
- protein-coding
- Description
- ubiquinol-cytochrome c reductase core protein 1
- Entrez Gene ID
- 7384
- Genome
- hg19
- Position
- chr3:48,636,435-48,647,079
- Genome
- hg38
- Position
- chr3:48,599,002-48,609,646
- MIM
- 191328 OMIM
- HGNC
- HGNC:12585 HGNC
- Ensembl
- ENSG00000010256 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 4 |
| Likely benign | 0 | 6 |
| no classification for the single variant | 0 | 4 |
| Uncertain significance | 0 | 72 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
76 |
 |
8 |
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 | D3S3191 |
| SYNONYM | PKNPY |
| SYNONYM | QCR1 |
| SYNONYM | UQCR1 |
| MIM | 191328 OMIM |
| HGNC | HGNC:12585 HGNC |
| Ensembl | ENSG00000010256 Ensembl |
| AllianceGenome | HGNC:12585 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000714195.1 | hg38 | chr3 | 48,599,004 | 48,609,646 | 10,643 |
| ENST00000203407.6 | hg38 | chr3 | 48,599,002 | 48,609,646 | 10,645 |
| ENST00000203407.6 | hg19 | chr3 | 48,636,435 | 48,647,079 | 10,645 |
| ENST00000714195.1 | hg19 | chr3 | 48,636,437 | 48,647,079 | 10,643 |
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