rs80338799

Orientation

minus

Stabilized

minus

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

Make rs80338799(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12585745

Gene

RAF1

is a	snp
is	mentioned by
dbSNP	rs80338799
dbSNP (classic)	rs80338799
ClinGen	rs80338799
ebi	rs80338799
HLI	rs80338799
Exac	rs80338799
Gnomad	rs80338799
Varsome	rs80338799
LitVar	rs80338799
Map	rs80338799
PheGenI	rs80338799
Biobank	rs80338799
1000 genomes	rs80338799
hgdp	rs80338799
ensembl	rs80338799
geneview	rs80338799
scholar	rs80338799
google	rs80338799
pharmgkb	rs80338799
gwascentral	rs80338799
openSNP	rs80338799
23andMe	rs80338799
SNPshot	rs80338799
SNPdbe	rs80338799
MSV3d	rs80338799
GWAS Ctlg	rs80338799

Max Magnitude

7

aka c.1472C>T (p.Thr491Ile), and also, c.1472C>G (p.Thr491Arg)

23andMe name for c.1472C>G: i5008106

OMIM	164760
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338799(G;G) rs80338799(T;T)
Alt	rs80338799(G;G) rs80338799(T;T)
Reference	Rs80338799(C;C)
Significance	Other
Disease	Noonan syndrome with multiple lentigines Noonan syndrome not provided Noonan syndrome 5
Variation	info
Gene	RAF1
CLNDBN	Noonan syndrome with multiple lentigines Noonan syndrome not provided Noonan syndrome 5
Reversed	1
HGVS	NC_000003.11:g.12627244G>A; NC_000003.11:g.12627244G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000020507.1, RCV000037676.3, RCV000159086.3, RCV000014988.25,