chr7:140477807:C>T Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,477,807-140,477,807 |
| hg38 | chr7:140,778,007-140,778,007 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.1621G>A | NP_004324.2:p.Glu541Lys |
| Ensemble | ENST00000496384.7:c.1501G>A | ENST00000496384.7:p.Glu501Lys |
| ENST00000288602.11:c.1621G>A | ENST00000288602.11:p.Glu541Lys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
cardiofaciocutaneous syndrome |
germline
|
MGS000019
(TMGS000036) |
Yoichi Matsubara | National Center for Child Health and Development | ||||
|
Pathogenic
|
2017/03/30 | cardiofaciocutaneous syndrome |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | |||
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000155) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-09-02 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2023-10-22 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2015-12-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2014-05-23 | no assertion criteria provided | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
|
Detail |
|
Pathogenic
|
2014-05-23 | no assertion criteria provided | Cardio-facio-cutaneous syndrome,Noonan syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-03-21 | criteria provided, single submitter |
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.1501G>A (p.Glu501Lys) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) AND Cardiovascular phenotype | 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
- rs180177038 dbSNP
- Genome
- hg19
- Position
- chr7:140,477,807-140,477,807
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser