chr7:140453132:T>G Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,132-140,453,132 |
| hg38 | chr7:140,753,332-140,753,332 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1923A>C | NP_004324.2:p.Lys641Asn |
| Ensemble | ENST00000496384.7:c.1803A>C | ENST00000496384.7:p.Lys601Asn |
| ENST00000288602.11:c.1923A>C | ENST00000288602.11:p.Lys641Asn |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| 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
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Uncertain significance
|
2020-03-31 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.001 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Thyroid tumor | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) AND RASopathy | ClinVar | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | 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
- rs121913365 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,132-140,453,132
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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