chr7:140481402:C>A Detail (hg19) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,481,402-140,481,402 |
hg38 | chr7:140,781,602-140,781,602 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1526G>T | NP_004324.2:p.Gly509Val |
Ensemble | ENST00000288602.11:c.1526G>T | ENST00000288602.11:p.Gly509Val |
ENST00000496384.7:c.1406G>T | ENST00000496384.7:p.Gly469Val |
Summary
MGeND
Clinical significance |
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Variant entry | 8 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-12-30 | criteria provided, single submitter | Non-small cell lung carcinoma |
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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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2014-10-02 | no assertion criteria provided | Neoplasm of the large intestine |
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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 | lung adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided |
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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 | Squamous cell lung carcinoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.242 | Lymphoma, Non-Hodgkin | NA | CLINVAR | Detail | |
0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail | |
0.049 | Metastatic melanoma | Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of ... | BeFree | 26070258 | Detail |
0.015 | Malignant neoplasm of lung | The three most common BRAF mutations in lung cancers accounted for only 41% of t... | BeFree | 26386083 | Detail |
0.125 | Carcinoma of lung | The three most common BRAF mutations in lung cancers accounted for only 41% of t... | BeFree | 26386083 | Detail |
0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Multiple myeloma | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Prostate adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Lung adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Neoplasm | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Squamous cell carcinoma of the skin | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Malignant melanoma of skin | ClinVar | Detail |
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) AND Squamous cell lung carcinoma | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of therapy with BRAF in... | DisGeNET | Detail |
The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... | DisGeNET | Detail |
The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... | DisGeNET | Detail |
NA | 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
- rs121913355 dbSNP
- Genome
- hg19
- Position
- chr7:140,481,402-140,481,402
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G469V
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/841
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