Variant information


Systematic Name c.[916C>T(;)1233C>T]
Protein name p.[Arg306Cys(;)Ser411Ser]
Mutation type missense, silent
Domain TRD, 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.[916C>T(;)1233C>T] p.[Arg306Cys(;)Ser411Ser] missense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 4286 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