chr7:140453152:A>G Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,152-140,453,152 |
| hg38 | chr7:140,753,352-140,753,352 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1903T>C | NP_004324.2:p.Phe635Leu |
| Ensemble | ENST00000288602.11:c.1903T>C | ENST00000288602.11:p.Phe635Leu |
| ENST00000496384.7:c.1783T>C | ENST00000496384.7:p.Phe595Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-11-01 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-08-11 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Pathogenic
|
2022-03-31 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
Uncertain significance
|
2022-07-29 | no assertion criteria provided | Prostate cancer, hereditary, 1 |
germline
|
Detail |
|
Pathogenic
|
2023-12-09 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND Prostate cancer, hereditary, 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) AND RASopathy | ClinVar | 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
- rs794729219 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,152-140,453,152
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser