rs397507479

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	7	Rasopathy; Cardio-facio-cutaneous syndrome
(G;G)	0	common in clinvar

Make rs397507479(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140777011

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs397507479
dbSNP (classic)	rs397507479
ClinGen	rs397507479
ebi	rs397507479
HLI	rs397507479
Exac	rs397507479
Gnomad	rs397507479
Varsome	rs397507479
LitVar	rs397507479
Map	rs397507479
PheGenI	rs397507479
Biobank	rs397507479
1000 genomes	rs397507479
hgdp	rs397507479
ensembl	rs397507479
geneview	rs397507479
scholar	rs397507479
google	rs397507479
pharmgkb	rs397507479
gwascentral	rs397507479
openSNP	rs397507479
23andMe	rs397507479
SNPshot	rs397507479
SNPdbe	rs397507479
MSV3d	rs397507479
GWAS Ctlg	rs397507479

Max Magnitude

7

aka c.1595G>A (p.Cys532Tyr)

ClinVar
Risk	rs397507479(A;A)
Alt	rs397507479(A;A)
Reference	Rs397507479(G;G)
Significance	Pathogenic
Disease	not provided Cardio-facio-cutaneous syndrome not specified
Variation	info
Gene	BRAF
CLNDBN	not provided Cardio-facio-cutaneous syndrome not specified
Reversed	1
HGVS	NC_000007.13:g.140476811C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000080902.6, RCV000150205.2, RCV000259083.1,