chr7:140753345:A>C Detail (hg38) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,453,145-140,453,145 View the variant detail on this assembly version. |
hg38 | chr7:140,753,345-140,753,345 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1910T>G | NP_004324.2:p.Leu637Arg |
Ensemble | ENST00000288602.11:c.1910T>G | ENST00000288602.11:p.Leu637Arg |
ENST00000496384.7:c.1790T>G | ENST00000496384.7:p.Leu597Arg |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
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2018/04/12 | Ovarian cancer |
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MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2003-08-15 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2015-07-14 | no assertion criteria provided | melanoma |
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Detail |
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2014-10-02 | no assertion criteria provided | Neoplasm of ovary |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.055 | adenocarcinoma | Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed m... | BeFree | 12460919 | Detail |
0.244 | Adenocarcinoma of lung (disorder) | NA | CLINVAR | Detail | |
0.049 | Metastatic melanoma | Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic mela... | BeFree | 24933606 | Detail |
0.006 | Metastatic melanoma | We carried out a retrospective analysis of efficacy and safety in four patients ... | BeFree | 24933606 | 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 |
A case report of a patient with BRAF L597R mutation and clinical response to BRAF-inhibition (Vemura... | CIViC Evidence | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Lung adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Malignant melanoma of skin | ClinVar | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Multiple myeloma | ClinVar | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Melanoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) AND Neoplasm of ovary | ClinVar | Detail |
Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumo... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. | DisGeNET | Detail |
We carried out a retrospective analysis of efficacy and safety in four patients with BRAF K601E and ... | 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
- rs121913366 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,345-140,753,345
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L597R
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/288
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