chr7:140453154:T>G Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,154-140,453,154 |
| hg38 | chr7:140,753,354-140,753,354 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1901A>C | NP_004324.2:p.Asp634Ala |
| Ensemble | ENST00000288602.11:c.1901A>C | ENST00000288602.11:p.Asp634Ala |
| ENST00000496384.7:c.1781A>C | ENST00000496384.7:p.Asp594Ala |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Sorafenib,Mitogen-Activated Protein Kinase Kinase Inhibitor | 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 |
| NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala) AND Melanoma | ClinVar | 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
- rs121913338 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,154-140,453,154
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- D594A
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/579
Genome browser