chr7:140476813:C>G 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	chr7:140,476,813-140,476,813
hg38	chr7:140,777,013-140,777,013 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1713G>C	NP_004324.2:p.Trp571Cys
Ensemble	ENST00000288602.11:c.1713G>C	ENST00000288602.11:p.Trp571Cys
	ENST00000496384.7:c.1593G>C	ENST00000496384.7:p.Trp531Cys
	ENST00000644969.2:c.1713G>C	ENST00000644969.2:p.Trp571Cys
	ENST00000646891.2:c.1593G>C	ENST00000646891.2:p.Trp531Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Pathogenic	2009-04-01	no assertion criteria provided	Noonan syndrome 7	germline	Detail
Pathogenic	2014-04-04	criteria provided, single submitter	RASopathy	de novo	Detail
not provided		no assertion provided	Noonan syndrome 1	germline	Detail
Pathogenic	2019-07-12	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Noonan syndrome 7	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) AND Noonan syndrome 7	ClinVar	Detail
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) AND RASopathy	ClinVar	Detail
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) AND Noonan syndrome 1	ClinVar	Detail
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) AND not provided	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: rs606231228 dbSNP
Genome: hg19
Position: chr7:140,476,813-140,476,813
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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