chr7:140453135:CA>GT Detail (hg19) (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	chr7:140,453,135-140,453,136
hg38	chr7:140,753,335-140,753,336 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1919_1920delinsAC	NP_004324.2:p.Val640Asp
Ensemble	ENST00000288602.11:c.1919_1920delinsAC	ENST00000288602.11:p.Val640Asp
	ENST00000496384.7:c.1799_1800delinsAC	ENST00000496384.7:p.Val600Asp
	ENST00000644969.2:c.1919_1920delinsAC	ENST00000644969.2:p.Val640Asp
	ENST00000646891.2:c.1799_1800delinsAC	ENST00000646891.2:p.Val600Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM308550	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-03-28	no assertion criteria provided	melanoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.431	melanoma	Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutatio...	BeFree	23317446	Detail
0.005	melanoma	Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V...	BeFree	23624923	Detail
0.431	melanoma	Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V...	BeFree	23624923	Detail
0.431	melanoma	In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in...	BeFree	15948220	Detail
<0.001	melanoma	Preclinical studies revealed that GLV-1h68 combined with radiotherapy significan...	BeFree	23624923	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1799_1800delinsAC (p.Val600Asp) AND Melanoma	ClinVar	Detail
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.	DisGeNET	Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m...	DisGeNET	Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m...	DisGeNET	Detail
In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of whi...	DisGeNET	Detail
Preclinical studies revealed that GLV-1h68 combined with radiotherapy significantly increased cytoto...	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: -
Genome: hg19
Position: chr7:140,453,135-140,453,136
Variant Type: snv
Reference Allele: CA
Alternative Allele: GT

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