chr7:140477853:C>G Detail (hg19) (BRAF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:140,477,853-140,477,853 |
hg38 | chr7:140,778,053-140,778,053 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004333.4:c.1575G>C | NP_004324.2:p.Leu525Phe |
Ensemble | ENST00000288602.11:c.1575G>C | ENST00000288602.11:p.Leu525Phe |
ENST00000496384.7:c.1455G>C | ENST00000496384.7:p.Leu485Phe |
Summary
MGeND
Clinical significance |
![]() ![]() ![]() |
Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
cardiofaciocutaneous syndrome |
![]() |
MGS000019
(TMGS000036) |
Yoichi Matsubara | National Center for Child Health and Development | ||||
![]() |
2018/07/20 | cardiofaciocutaneous syndrome |
![]() |
MGS000016
(TMGS000059) |
Masashi Mizokami | Shinshu University | |||
![]() |
2017/03/30 | cardiofaciocutaneous syndrome |
![]() |
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | |||
![]() |
pyloric antrum |
![]() |
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2006-03-01 | no assertion criteria provided | cardiofaciocutaneous syndrome 1 |
![]() |
Detail |
![]() |
2021-09-26 | criteria provided, single submitter | Cardio-facio-cutaneous syndrome |
![]() |
Detail |
![]() |
2014-10-21 | no assertion criteria provided | Noonan syndrome,Cardio-facio-cutaneous syndrome |
![]() |
Detail |
![]() |
2014-10-21 | no assertion criteria provided | Noonan syndrome,Cardio-facio-cutaneous syndrome |
![]() |
Detail |
![]() |
2023-07-13 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
![]() |
2020-02-28 | reviewed by expert panel | RASopathy |
![]() |
Detail |
![]() |
2022-03-05 | criteria provided, single submitter | Ataxia-telangiectasia syndrome |
![]() |
Detail |
![]() |
2023-01-27 | criteria provided, single submitter | BRAF-related disorder |
![]() |
Detail |
![]() |
2021-11-09 | criteria provided, single submitter |
![]() |
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.1455G>C (p.Leu485Phe) AND Cardiofaciocutaneous syndrome 1 | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND Cardio-facio-cutaneous syndrome | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND multiple conditions | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND multiple conditions | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND not provided | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND RASopathy | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) AND BRAF-related disorder | ClinVar | Detail |
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) 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
- rs180177036 dbSNP
- Genome
- hg19
- Position
- chr7:140,477,853-140,477,853
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser