Noonan syndrome 1
OMIM:163950Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | PTPN11 |
|---|---|
| Reference transcript | NM_002834.3 |
| DNA Change | c.922A>G |
| A.A. Change | p.Asn308Asp |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cave H, Sefiani A.Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. Am J Med Genet A. 2010 Nov;152A(11):2850-3. |
| Gene Symbol | PTPN11 |
|---|---|
| Reference transcript | NM_002834.3 |
| DNA Change | c.182A>G |
| A.A. Change | p.Asp61Gly |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | El Bouchikhi I, Samri I, Iraqui Houssaini M, Trhanint S, Bouguenouch L, Sayel H, Hida M, Atmani S, Ouldim K.The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. Turk J Med Sci. 2015;45(2):306-12. |
| Gene Symbol | PTPN11 |
|---|---|
| Reference transcript | NM_002834.3 |
| DNA Change | c.188A>G |
| A.A. Change | p.Tyr63Cys |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | El Bouchikhi I, Samri I, Iraqui Houssaini M, Trhanint S, Bouguenouch L, Sayel H, Hida M, Atmani S, Ouldim K.The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. Turk J Med Sci. 2015;45(2):306-12. |
| Gene Symbol | PTPN11 |
|---|---|
| Reference transcript | NM_002834.3 |
| DNA Change | c.923A>G |
| A.A. Change | p.Asn308Ser |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | El Bouchikhi I, Samri I, Iraqui Houssaini M, Trhanint S, Bouguenouch L, Sayel H, Hida M, Atmani S, Ouldim K.The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies. Turk J Med Sci. 2015;45(2):306-12. |