chr7:140778006:T>C Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,477,806-140,477,806 View the variant detail on this assembly version.
hg38 chr7:140,778,006-140,778,006

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1622A>G NP_004324.2:p.Glu541Gly
Ensemble ENST00000288602.11:c.1622A>G ENST00000288602.11:p.Glu541Gly
ENST00000496384.7:c.1502A>G ENST00000496384.7:p.Glu501Gly
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/03/30 cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-10-02 criteria provided, single submitter cardiofaciocutaneous syndrome 1 germline unknown Detail
Pathogenic 2022-09-07 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Pathogenic 2011-11-21 criteria provided, single submitter Cardio-facio-cutaneous syndrome germline Detail
Likely pathogenic 2014-10-08 criteria provided, single submitter ventricular septal defect,Pulmonic stenosis unknown Detail
Likely pathogenic 2014-10-08 criteria provided, single submitter ventricular septal defect,Pulmonic stenosis unknown Detail
Pathogenic 2023-05-08 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2020-09-16 no assertion criteria provided Familial cardiofaciocutaneous syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND multiple conditions ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) AND Familial cardiofaciocutaneous syndrome 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
rs180177039 dbSNP
Genome
hg38
Position
chr7:140,778,006-140,778,006
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser