rs28933386

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

112477719

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs28933386
dbSNP (classic)	rs28933386
ClinGen	rs28933386
ebi	rs28933386
HLI	rs28933386
Exac	rs28933386
Gnomad	rs28933386
Varsome	rs28933386
LitVar	rs28933386
Map	rs28933386
PheGenI	rs28933386
Biobank	rs28933386
1000 genomes	rs28933386
hgdp	rs28933386
ensembl	rs28933386
geneview	rs28933386
scholar	rs28933386
google	rs28933386
pharmgkb	rs28933386
gwascentral	rs28933386
openSNP	rs28933386
23andMe	rs28933386
SNPshot	rs28933386
SNPdbe	rs28933386
MSV3d	rs28933386
GWAS Ctlg	rs28933386

Max Magnitude

7

aka c.922A>G (p.Asn308Asp)

23andMe name: i5003216

OMIM	176876
Desc	NOONAN SYNDROME 1
Variant	0003
Related	also

ClinVar
Risk	Rs28933386(G;G)
Alt	Rs28933386(G;G)
Reference	Rs28933386(A;A)
Significance	Pathogenic
Disease	Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112915523A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014254.32, RCV000033516.9, RCV000077863.5, RCV000156977.3,

[PMID 11704759] Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

[PMID 11992261] PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

[PMID 12161469] PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

[PMID 15723289] Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.