chr7:140778066:G>T 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	chr7:140,477,866-140,477,866 View the variant detail on this assembly version.
hg38	chr7:140,778,066-140,778,066

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1562C>A	NP_004324.2:p.Ala521Glu
Ensemble	ENST00000288602.11:c.1562C>A	ENST00000288602.11:p.Ala521Glu
	ENST00000496384.7:c.1442C>A	ENST00000496384.7:p.Ala481Glu
	ENST00000644969.2:c.1562C>A	ENST00000644969.2:p.Ala521Glu
	ENST00000646891.2:c.1442C>A	ENST00000646891.2:p.Ala481Glu

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
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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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2012-02-29	criteria provided, single submitter	Cardio-facio-cutaneous syndrome	germline	Detail
Likely pathogenic	2022-03-22	criteria provided, single submitter	cardiofaciocutaneous syndrome 1	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

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) AND Cardio-facio-cutaneous syndrome	ClinVar	Detail
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) AND Cardiofaciocutaneous syndrome 1	ClinVar	Detail
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) AND Neurodevelopmental delay	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: rs397516892 dbSNP
Genome: hg38
Position: chr7:140,778,066-140,778,066
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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