chr7:140801537:T>A Detail (hg38) (BRAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:140,501,337-140,501,337 View the variant detail on this assembly version. |
| hg38 | chr7:140,801,537-140,801,537 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004333.4:c.735A>T | NP_004324.2:p.Leu245Phe |
| Ensemble | ENST00000288602.11:c.735A>T | ENST00000288602.11:p.Leu245Phe |
| ENST00000496384.7:c.735A>T | ENST00000496384.7:p.Leu245Phe |
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
|
2012-03-28 | criteria provided, single submitter | not provided |
germline
|
Detail |
Likely pathogenic
|
2012-08-22 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
germline
|
Detail |
not provided
|
no assertion provided | Noonan syndrome with multiple lentigines |
unknown
|
Detail | |
|
Likely pathogenic
|
2018-07-27 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Pathogenic
|
2019-05-10 | reviewed by expert panel | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter |
de novo
|
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 | |
| 0.567 | Cardio-facio-cutaneous syndrome | We speculate that the impact of p.L245F on BRAF protein function differs either ... | BeFree | 19416762 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND not provided | ClinVar | Detail |
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND Noonan syndrome with multiple lentigines | ClinVar | Detail |
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND RASopathy | ClinVar | Detail |
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) AND Neurodevelopmental delay | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or qua... | 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
- rs397507466 dbSNP
- Genome
- hg38
- Position
- chr7:140,801,537-140,801,537
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser