chr7:140753335:> Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,135-140,453,137 |
| hg38 | chr7:140,753,335-140,753,337 |
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
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A single patient with BRAF V600E/V600M bi-allelic mutation responded to the V600E drug dabrafenib. | 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
- chr7:140,753,335-140,753,337
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- V600E+V600M
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/13
- Summary (CIViC Variant)
- A case study of a single patient harboring both a V600E and a V600M mutation, dabrafenib was shown to acheive clinical response.
- Variant (CIViC) (CIViC Variant)
- V600G
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1199
- Variant (CIViC) (CIViC Variant)
- V600L
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1404
- Variant (CIViC) (CIViC Variant)
- V600M
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1405
Genome browser