chr7:140501351:T>G Detail (hg19) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,501,351-140,501,351 |
| hg38 | chr7:140,801,551-140,801,551 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.721A>C | NP_004324.2:p.Thr241Pro |
| Ensemble | ENST00000288602.11:c.721A>C | ENST00000288602.11:p.Thr241Pro |
| ENST00000496384.7:c.721A>C | ENST00000496384.7:p.Thr241Pro |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| 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
|
MGS000009
(TMGS000039) |
Shoji Tsuji | Tokyo University | ||||
|
Pathogenic
|
2017/03/30 | other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2009-04-01 | no assertion criteria provided | cardiofaciocutaneous syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2009-04-01 | no assertion criteria provided | LEOPARD syndrome 3 |
germline
|
Detail |
not provided
|
no assertion provided | Noonan syndrome with multiple lentigines |
unknown
|
Detail | |
|
Pathogenic
Likely pathogenic
|
2017-04-07 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-03-21 | criteria provided, multiple submitters, no conflicts | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,lung carcinoma,Noonan syndrome 7,Noonan syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,lung carcinoma,Noonan syndrome 7,Noonan syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,lung carcinoma,Noonan syndrome 7,Noonan syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,lung carcinoma,Noonan syndrome 7,Noonan syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,lung carcinoma,Noonan syndrome 7,Noonan syndrome 1 |
unknown
|
Detail |
|
Pathogenic
|
2021-04-16 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
not provided
|
no assertion provided | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 7 |
unknown
|
Detail | |
|
not provided
|
no assertion provided | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 7 |
unknown
|
Detail | |
|
not provided
|
no assertion provided | cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Noonan syndrome 7 |
unknown
|
Detail | |
|
Pathogenic
|
2022-01-11 | criteria provided, single submitter | Noonan syndrome 7 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.567 | Cardio-facio-cutaneous syndrome | NA | CLINVAR | Detail | |
| 0.241 | LEOPARD Syndrome | NA | CLINVAR | Detail | |
| 0.360 | LEOPARD syndrome 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND LEOPARD syndrome 3 | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND Noonan syndrome with multiple lentigines | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND multiple conditions | ClinVar | Detail |
| NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) AND Noonan syndrome 7 | ClinVar | Detail |
| NA | DisGeNET | 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
- rs387906661 dbSNP
- Genome
- hg19
- Position
- chr7:140,501,351-140,501,351
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser