chr7:140753346:G>A Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,146-140,453,146 View the variant detail on this assembly version. |
| hg38 | chr7:140,753,346-140,753,346 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1909C>T | NP_004324.2:p.Leu637= |
| Ensemble | ENST00000288602.11:c.1909C>T | ENST00000288602.11:p.Leu637= |
| ENST00000496384.7:c.1789C>T | ENST00000496384.7:p.Leu597= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
no assertion criteria provided | not provided |
unknown
|
Detail | |
|
Likely benign
|
2023-10-11 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Likely benign
|
2023-07-30 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail | |
| 0.360 | Noonan syndrome 7 | NA | CLINVAR | Detail | |
| 0.131 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1789C>T (p.Leu597=) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1789C>T (p.Leu597=) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1789C>T (p.Leu597=) AND Cardiovascular phenotype | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs121913369 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,346-140,753,346
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser