chr7:140753348:C>A Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,148-140,453,148 View the variant detail on this assembly version. |
| hg38 | chr7:140,753,348-140,753,348 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1907G>T | NP_004324.2:p.Gly636Val |
| Ensemble | ENST00000288602.11:c.1907G>T | ENST00000288602.11:p.Gly636Val |
| ENST00000496384.7:c.1787G>T | ENST00000496384.7:p.Gly596Val |
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
|
2017-04-03 | reviewed by expert panel | RASopathy |
germline
unknown
|
Detail |
|
Pathogenic
|
2013-05-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
not provided
|
no assertion provided | Cardio-facio-cutaneous syndrome |
germline
|
Detail | |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2014-09-10 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2014-09-10 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-08-20 | criteria provided, multiple submitters, no conflicts | cardiofaciocutaneous syndrome 1 |
unknown
|
Detail |
|
Likely pathogenic
|
2018-01-10 | criteria provided, single submitter | Inborn genetic diseases |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Multiple myeloma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Glioblastoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) AND Inborn genetic diseases | ClinVar | 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
- rs397507483 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,348-140,753,348
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G596V
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1650
Genome browser