BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Information
- Symbol
- BCS1L
- Type
- protein-coding
- Description
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
- Entrez Gene ID
- 617
- Genome
- hg19
- Position
- chr2:219,524,495-219,528,165
- Genome
- hg38
- Position
- chr2:218,659,772-218,663,442
- MIM
- 603647 OMIM
- HGNC
- HGNC:1020 HGNC
- Ensembl
- ENSG00000074582 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 124 |
| Likely pathogenic | 0 | 180 |
| Benign | 0 | 26 |
| Likely benign | 0 | 498 |
| Conflicting classifications of pathogenicity | 0 | 56 |
| Uncertain significance | 0 | 164 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
168 |
 |
724 |
 |
22 |
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 | BCS |
| SYNONYM | BCS1 |
| SYNONYM | BJS |
| SYNONYM | FLNMS |
| SYNONYM | GRACILE |
| SYNONYM | Hs.6719 |
| SYNONYM | MC3DN1 |
| SYNONYM | PTD |
| SYNONYM | h-BCS |
| SYNONYM | h-BCS1 |
| MIM | 603647 OMIM |
| HGNC | HGNC:1020 HGNC |
| Ensembl | ENSG00000074582 Ensembl |
| AllianceGenome | HGNC:1020 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392111.7 | hg38 | chr2 | 218,659,683 | 218,663,443 | 3,761 |
| ENST00000392110.6 | hg38 | chr2 | 218,659,714 | 218,663,442 | 3,729 |
| ENST00000431802.5 | hg38 | chr2 | 218,659,772 | 218,663,442 | 3,671 |
| ENST00000412366.5 | hg38 | chr2 | 218,659,737 | 218,663,443 | 3,707 |
| ENST00000359273.8 | hg38 | chr2 | 218,659,683 | 218,663,443 | 3,761 |
| ENST00000392109.5 | hg38 | chr2 | 218,659,709 | 218,663,443 | 3,735 |
| ENST00000439945.5 | hg38 | chr2 | 218,659,760 | 218,663,404 | 3,645 |
| ENST00000392109.5 | hg19 | chr2 | 219,524,432 | 219,528,166 | 3,735 |
| ENST00000392110.6 | hg19 | chr2 | 219,524,437 | 219,528,165 | 3,729 |
| ENST00000392111.7 | hg19 | chr2 | 219,524,406 | 219,528,166 | 3,761 |
| ENST00000359273.8 | hg19 | chr2 | 219,524,406 | 219,528,166 | 3,761 |
| ENST00000412366.5 | hg19 | chr2 | 219,524,460 | 219,528,166 | 3,707 |
| ENST00000439945.5 | hg19 | chr2 | 219,524,483 | 219,528,127 | 3,645 |
| ENST00000431802.5 | hg19 | chr2 | 219,524,495 | 219,528,165 | 3,671 |
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