chr7:140778048:A>C Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,477,848-140,477,848 View the variant detail on this assembly version. |
| hg38 | chr7:140,778,048-140,778,048 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1580T>G | NP_004324.2:p.Val527Gly |
| Ensemble | ENST00000288602.11:c.1580T>G | ENST00000288602.11:p.Val527Gly |
| ENST00000496384.7:c.1460T>G | ENST00000496384.7:p.Val487Gly |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2017/03/30 | cardiofaciocutaneous syndrome |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2012-04-13 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
|
Pathogenic
|
2015-05-29 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2021-01-19 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-07-21 | 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.1460T>G (p.Val487Gly) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) AND Inborn genetic diseases | ClinVar | Detail |
| NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) 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
- rs397516893 dbSNP
- Genome
- hg38
- Position
- chr7:140,778,048-140,778,048
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser