chr7:140781601:TCC> Detail (hg38) (BRAF)

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

Information

Genome

Assembly	Position
hg19	chr7:140,481,401-140,481,403
hg38	chr7:140,781,601-140,781,603

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1525_1527delGGA	NP_004324.2:p.Gly509del
Ensemble	ENST00000288602.11:c.1525_1527delGGA	ENST00000288602.11:p.Gly509del
	ENST00000496384.7:c.1405_1407delGGA	ENST00000496384.7:p.Gly469del
	ENST00000644969.2:c.1525_1527delGGA	ENST00000644969.2:p.Gly509del
	ENST00000646891.2:c.1405_1407delGGA	ENST00000646891.2:p.Gly469del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM6022225	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2009-09-21	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.131	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1405_1407del (p.Gly469del) AND Non-small cell lung carcinoma	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: rs397516890 dbSNP
Genome: hg38
Position: chr7:140,781,601-140,781,603
Variant Type: snv
Reference Allele: TCC
Alternative Allele: -

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