rs397507483

Orientation

minus

Stabilized

minus

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

Make rs397507483(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140753348

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs397507483
dbSNP (classic)	rs397507483
ClinGen	rs397507483
ebi	rs397507483
HLI	rs397507483
Exac	rs397507483
Gnomad	rs397507483
Varsome	rs397507483
LitVar	rs397507483
Map	rs397507483
PheGenI	rs397507483
Biobank	rs397507483
1000 genomes	rs397507483
hgdp	rs397507483
ensembl	rs397507483
geneview	rs397507483
scholar	rs397507483
google	rs397507483
pharmgkb	rs397507483
gwascentral	rs397507483
openSNP	rs397507483
23andMe	rs397507483
SNPshot	rs397507483
SNPdbe	rs397507483
MSV3d	rs397507483
GWAS Ctlg	rs397507483

Max Magnitude

7

aka c.1787G>T (p.Gly596Val)

23andMe name: i6008198

ClinVar
Risk	rs397507483(A;A) rs397507483(T;T)
Alt	rs397507483(A;A) rs397507483(T;T)
Reference	Rs397507483(G;G)
Significance	Pathogenic
Disease	Rasopathy not provided Cardio-facio-cutaneous syndrome Multiple myeloma Glioblastoma Transitional cell carcinoma of the bladder Adenocarcinoma of lung
Variation	info
Gene	BRAF
CLNDBN	Rasopathy not provided Cardio-facio-cutaneous syndrome Multiple myeloma Glioblastoma Transitional cell carcinoma of the bladder Adenocarcinoma of lung
Reversed	1
HGVS	NC_000007.13:g.140453148C>A; NC_000007.13:g.140453148C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000033332.7, RCV000077865.4, RCV000208758.1, RCV000424067.1, RCV000431311.1, RCV000438697.1, RCV000441123.1, RCV000425257.1, RCV000432706.1, RCV000435960.1, RCV000442687.1,