chr7:140778006:T>G Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,477,806-140,477,806 View the variant detail on this assembly version. |
| hg38 | chr7:140,778,006-140,778,006 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1622A>C | NP_004324.2:p.Glu541Ala |
| Ensemble | ENST00000288602.11:c.1622A>C | ENST00000288602.11:p.Glu541Ala |
| ENST00000496384.7:c.1502A>C | ENST00000496384.7:p.Glu501Ala |
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
|
2021-04-07 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-08-13 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
not provided
|
no assertion provided | cardiofaciocutaneous syndrome 1 |
unknown
|
Detail | |
Uncertain significance
|
no assertion criteria provided | Noonan syndrome |
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_004333.6(BRAF):c.1502A>C (p.Glu501Ala) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) AND Noonan syndrome | 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
- rs180177039 dbSNP
- Genome
- hg38
- Position
- chr7:140,778,006-140,778,006
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser