rs397507546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
|
23832011 |
2013 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
|
19352411 |
2009 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |
rs121918458
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
|
16115145 |
2005 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
rs121918458
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs121918458
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
|
15834506 |
2005 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs121918458
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
|
15240615 |
2004 |
rs121918458
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
|
12739139 |
2003 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
rs397507546
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
rs121918458
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
rs121918455
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918456
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|