rs397507465

Orientation

minus

Stabilized

minus

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

Make rs397507465(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140801542

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs397507465
dbSNP (classic)	rs397507465
ClinGen	rs397507465
ebi	rs397507465
HLI	rs397507465
Exac	rs397507465
Gnomad	rs397507465
Varsome	rs397507465
LitVar	rs397507465
Map	rs397507465
PheGenI	rs397507465
Biobank	rs397507465
1000 genomes	rs397507465
hgdp	rs397507465
ensembl	rs397507465
geneview	rs397507465
scholar	rs397507465
google	rs397507465
pharmgkb	rs397507465
gwascentral	rs397507465
openSNP	rs397507465
23andMe	rs397507465
SNPshot	rs397507465
SNPdbe	rs397507465
MSV3d	rs397507465
GWAS Ctlg	rs397507465

Max Magnitude

7

aka c.730A>C (p.Thr244Pro)

ClinVar
Risk	rs397507465(C;C)
Alt	rs397507465(C;C)
Reference	Rs397507465(A;A)
Significance	Pathogenic
Disease	not provided Cardio-facio-cutaneous syndrome
Variation	info
Gene	BRAF
CLNDBN	not provided Cardio-facio-cutaneous syndrome
Reversed	1
HGVS	NC_000007.13:g.140501342T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033282.4, RCV000037955.2,