Variant information


Systematic Name c.[473C>T(;)1335G>A]
Protein name p.[Thr158Met(;)Thr445Thr]
Mutation type missense, silent
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA lymphocytes
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[473C>T(;)1335G>A] p.[Thr158Met(;)Thr445Thr] missense, silent MBD, C-term Mutation associated with disease Female Rett syndrome-Classical 4243 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030