chr7:140719327:> Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,419,127-140,624,729 |
| hg38 | chr7:140,719,327-140,924,929 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| cancer | Vemurafenib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 29320312 | Detail |
| cancer | Vemurafenib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 29320312 | Detail |
| cancer | Vemurafenib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 29320312 | Detail |
| melanoma | Dabrafenib,Vemurafenib | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 24265155 | Detail |
| melanoma | Vemurafenib,Dabrafenib | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 24265155 | Detail |
| melanoma | Mitogen-Activated Protein Kinase Kinase Inhibitor,BRAF Inhibitor | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 31580757 | Detail |
| pancreatic cancer | Trametinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 29903880 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... | CIViC Evidence | Detail |
| The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... | CIViC Evidence | Detail |
| The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... | CIViC Evidence | Detail |
| In a retrospective study of 44 relapsed melanoma patients harboring BRAF V600E or V600K (known BRAF ... | CIViC Evidence | Detail |
| In a retrospective study of 44 relapsed melanoma patients harboring BRAF V600E or V600K (known BRAF ... | CIViC Evidence | Detail |
| In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or ME... | CIViC Evidence | Detail |
| In a case report, a patient with pancreatic cancer harboring BRAF N486-P490del was treated with tram... | 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
- -
- Genome
- hg38
- Position
- chr7:140,719,327-140,924,929
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- APC
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/842
- Variant (CIViC) (CIViC Variant)
- G496A
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2221
- Variant (CIViC) (CIViC Variant)
- intron 9 rearrangement
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2225
- Variant (CIViC) (CIViC Variant)
- intron 10 rearrangement
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2226
- Variant (CIViC) (CIViC Variant)
- BRAF fusions and mutations
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2639
- Variant (CIViC) (CIViC Variant)
- L525R
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2793
- Variant (CIViC) (CIViC Variant)
- N486_P490del
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2794
- Variant (CIViC) (CIViC Variant)
- T488_P492del
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2795
- Variant (CIViC) (CIViC Variant)
- P490_Q494del
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2796
- Variant (CIViC) (CIViC Variant)
- class 2 mutations
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2800
- Variant (CIViC) (CIViC Variant)
- class 3 mutations
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2801
- Variant (CIViC) (CIViC Variant)
- V600_K601>E
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2820
- Variant (CIViC) (CIViC Variant)
- V600_S602>DT
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2821
- Variant (CIViC) (CIViC Variant)
- T599_V600insT
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2824
- Variant (CIViC) (CIViC Variant)
- V601E
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2825
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