BRCA1 UNDEREXPRESSION Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,196,312-41,277,387 |
hg38 | chr17:43,044,295-43,125,370 View the variant detail on this assembly version. |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovarian cancer | Platinum Compound,Taxane Compound | B |
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Sensitivity/Response | Somatic | 3 | 21920589 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Absent/low expression of BRCA1 (IHC) was associated with improved response to chemotherapy in 292 pa... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- BRCA1
- Genome
- hg19
- Position
- chr17:41,196,312-41,277,387
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- UNDEREXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000357654.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/403
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