chr7:140453133:T>A Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,133-140,453,133 |
| hg38 | chr7:140,753,333-140,753,333 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1922A>T | NP_004324.2:p.Lys641Ile |
| Ensemble | ENST00000288602.11:c.1922A>T | ENST00000288602.11:p.Lys641Ile |
| ENST00000496384.7:c.1802A>T | ENST00000496384.7:p.Lys601Ile |
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-11-12 | criteria provided, single submitter | RASopathy |
de novo
germline
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | Cardio-facio-cutaneous syndrome |
de novo
unknown
|
Detail | |
|
Pathogenic
|
2022-03-22 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Likely pathogenic
|
criteria provided, single submitter | Noonan syndrome 7 |
germline
|
Detail | |
|
Likely pathogenic
|
2022-05-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Noonan syndrome 7 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) AND Noonan syndrome 7 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) AND not provided | 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
- rs397507484 dbSNP
- Genome
- hg19
- Position
- chr7:140,453,133-140,453,133
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser