chr7:140777006:C>G Detail (hg38) (BRAF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:140,476,806-140,476,806 View the variant detail on this assembly version.
hg38	chr7:140,777,006-140,777,006

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1720G>C	NP_004324.2:p.Gly574Arg
Ensemble	ENST00000288602.11:c.1720G>C	ENST00000288602.11:p.Gly574Arg
	ENST00000496384.7:c.1600G>C	ENST00000496384.7:p.Gly534Arg
	ENST00000644969.2:c.1720G>C	ENST00000644969.2:p.Gly574Arg
	ENST00000646891.2:c.1600G>C	ENST00000646891.2:p.Gly534Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

BRAF

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	COSM5419312	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-10-02	criteria provided, multiple submitters, no conflicts	cardiofaciocutaneous syndrome 1	germline	Detail
Likely pathogenic	2016-07-01	criteria provided, single submitter	Cardio-facio-cutaneous syndrome	germline	Detail
Likely pathogenic	2017-07-11	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2019-02-18	no assertion criteria provided	Genetic syndrome with a Dandy-Walker malformation as major feature,PHACE syndrome	germline	Detail
Pathogenic	2019-02-18	no assertion criteria provided	Genetic syndrome with a Dandy-Walker malformation as major feature,PHACE syndrome	germline	Detail
Likely pathogenic		no assertion criteria provided	Dandy-Walker syndrome	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.567	Cardio-facio-cutaneous syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND Cardiofaciocutaneous syndrome 1	ClinVar	Detail
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND Cardio-facio-cutaneous syndrome	ClinVar	Detail
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND Inborn genetic diseases	ClinVar	Detail
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND multiple conditions	ClinVar	Detail
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND multiple conditions	ClinVar	Detail
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) AND Dandy-Walker 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: rs180177041 dbSNP
Genome: hg38
Position: chr7:140,777,006-140,777,006
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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