chr7:140753350:A>C Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,453,150-140,453,150 View the variant detail on this assembly version. |
| hg38 | chr7:140,753,350-140,753,350 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1905T>G | NP_004324.2:p.Phe635Leu |
| Ensemble | ENST00000288602.11:c.1905T>G | ENST00000288602.11:p.Phe635Leu |
| ENST00000496384.7:c.1785T>G | ENST00000496384.7:p.Phe595Leu |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2021-11-04 | criteria provided, multiple submitters, no conflicts | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-11-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | Neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Pathogenic
|
2017-04-03 | reviewed by expert panel | RASopathy |
de novo
germline
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.1785T>G (p.Phe595Leu) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) AND Neoplasm | ClinVar | Detail |
| NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) AND Melanoma | ClinVar | Detail |
| NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) 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
- rs121913341 dbSNP
- Genome
- hg38
- Position
- chr7:140,753,350-140,753,350
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- F595L
- Transcript 1 (CIViC Variant)
- ENST00000288602.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1121
Genome browser