chr7:140449165:A>C Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,449,165-140,449,165 |
| hg38 | chr7:140,749,365-140,749,365 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.2034T>G | NP_004324.2:p.Asp678Glu |
| Ensemble | ENST00000288602.11:c.2034T>G | ENST00000288602.11:p.Asp678Glu |
| ENST00000496384.7:c.1914T>G | ENST00000496384.7:p.Asp638Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2024-03-14 | criteria provided, multiple submitters, no conflicts | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-12-28 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2017-01-05 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2022-08-28 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Pathogenic
|
2018-08-16 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1 |
de novo
|
Detail |
not provided
|
no assertion provided | Noonan syndrome 1 |
unknown
|
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_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND not provided | ClinVar | Detail |
| NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND Inborn genetic diseases | ClinVar | Detail |
| NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND RASopathy | ClinVar | Detail |
| NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) AND Noonan syndrome 1 | 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
- rs180177042 dbSNP
- Genome
- hg19
- Position
- chr7:140,449,165-140,449,165
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser