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rs28933386

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0
(T;T) 0
Make rs28933386(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112477719
GenePTPN11
is asnp
is mentioned by
dbSNPrs28933386
ebirs28933386
HLIrs28933386
Exacrs28933386
Varsomers28933386
Maprs28933386
PheGenIrs28933386
hapmaprs28933386
1000 genomesrs28933386
hgdprs28933386
ensemblrs28933386
gopubmedrs28933386
geneviewrs28933386
scholarrs28933386
googlers28933386
pharmgkbrs28933386
gwascentralrs28933386
openSNPrs28933386
23andMers28933386
23andMe allrs28933386
SNP Nexus

SNPshotrs28933386
SNPdbers28933386
MSV3drs28933386
GWAS Ctlgrs28933386
Max Magnitude0
OMIM176876
DescNOONAN SYNDROME 1
Variant0003
Relatedalso


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
CLNACC RCV000014254.32, RCV000033516.8, RCV000077863.5, RCV000156977.3,



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


[PMID 11992261OA-icon.png] 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.