Proband information



Proband id 5061
Systematic Name c.1437G>A
Protein name p.Thr479Thr
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent exons 3,4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.1437G>A p.Thr479Thr silent C-term Silent polymorphism Female Rett syndrome-atypical 5061 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346