chr7:140753345:AG>GA Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,145-140,453,146 View the variant detail on this assembly version. |
| hg38 | chr7:140,753,345-140,753,346 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1909_1910delinsTC | NP_004324.2:p.Leu637Ser |
| Ensemble | ENST00000646891.2:c.1789_1790delinsTC | ENST00000646891.2:p.Leu597Ser |
| ENST00000644969.2:c.1909_1910delinsTC | ENST00000644969.2:p.Leu637Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Trametinib,Vemurafenib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 22798288 | Detail |
| skin melanoma | MEK Inhibitor TAK-733 | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22798288 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.049 | Metastatic melanoma | A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to... | BeFree | 22798288 | Detail |
| <0.001 | Metastatic melanoma | A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to... | BeFree | 22798288 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants eleva... | CIViC Evidence | Detail |
| Case report of a 69 year old patient with metastatic melanoma treated with MEK inhibitor TAK-733 in ... | CIViC Evidence | Detail |
| NM_004333.6(BRAF):c.1789_1790delinsTC (p.Leu597Ser) AND Melanoma | ClinVar | Detail |
| A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to treatment with the ... | DisGeNET | Detail |
| A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to treatment with the ... | DisGeNET | 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
- -
- dbSNP
- rs121913368 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,345-140,753,346
- Variant Type
- snv
- Reference Allele
- AG
- Alternative Allele
- GA
- Variant (CIViC) (CIViC Variant)
- L597S
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/582
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