chr7:140753393:T>C Detail (hg38) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,453,193-140,453,193 View the variant detail on this assembly version. |
hg38 | chr7:140,753,393-140,753,393 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1862A>G | NP_004324.2:p.Asn621Ser |
Ensemble | ENST00000288602.11:c.1862A>G | ENST00000288602.11:p.Asn621Ser |
ENST00000496384.7:c.1742A>G | ENST00000496384.7:p.Asn581Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
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2013-07-19 | 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 | Neoplasm of the large intestine |
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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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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 | lung adenocarcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
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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 | chronic myelogenous leukemia, BCR-ABL1 positive |
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Detail |
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2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
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Detail |
CIViC
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... | CIViC Evidence | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Melanoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Malignant melanoma of skin | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Lung adenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Multiple myeloma | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | Detail |
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- Gene
- -
- dbSNP
- rs121913370 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,393-140,753,393
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- N581S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1186
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