rs80338797

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	7	Noonan syndrome

Make rs80338797(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12584624

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs80338797
dbSNP (classic)	rs80338797
ClinGen	rs80338797
ebi	rs80338797
HLI	rs80338797
Exac	rs80338797
Gnomad	rs80338797
Varsome	rs80338797
LitVar	rs80338797
Map	rs80338797
PheGenI	rs80338797
Biobank	rs80338797
1000 genomes	rs80338797
hgdp	rs80338797
ensembl	rs80338797
geneview	rs80338797
scholar	rs80338797
google	rs80338797
pharmgkb	rs80338797
gwascentral	rs80338797
openSNP	rs80338797
23andMe	rs80338797
SNPshot	rs80338797
SNPdbe	rs80338797
MSV3d	rs80338797
GWAS Ctlg	rs80338797

Max Magnitude

7

aka c.1837C>G (p.Leu613Val)

OMIM	164760
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80338797(G;G)
Alt	rs80338797(G;G)
Reference	Rs80338797(C;C)
Significance	Pathogenic
Disease	LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome with multiple lentigines Rasopathy not provided Noonan syndrome
Variation	info
Gene	RAF1
CLNDBN	LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome with multiple lentigines Rasopathy not provided Noonan syndrome
Reversed	1
HGVS	NC_000003.11:g.12626123G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014989.26, RCV000014990.24, RCV000020508.1, RCV000159089.1, RCV000254689.1, RCV000440827.1,

[PMID 17603482] Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

[PMID 17603483] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.