chr7:140778059:TT>CA Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,477,859-140,477,860 View the variant detail on this assembly version. |
| hg38 | chr7:140,778,059-140,778,060 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1568_1569delinsTG | NP_004324.2:p.Lys523Met |
| Ensemble | ENST00000288602.11:c.1568_1569delinsTG | ENST00000288602.11:p.Lys523Met |
| ENST00000496384.7:c.1448_1449delinsTG | ENST00000496384.7:p.Lys483Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Mitogen-Activated Protein Kinase Kinase Inhibitor,Sorafenib | E |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 20141835 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A... | 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
- chr7:140,778,059-140,778,060
- Variant Type
- snv
- Reference Allele
- TT
- Alternative Allele
- CA
- Variant (CIViC) (CIViC Variant)
- K483M
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/581
- Summary (CIViC Variant)
- The K483M variant is a kinase dead loss-of-function variant in the catalytic site of BRAF. This engineered variant is often used as a control when evaluating other BRAF variants.
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