Variant information


Systematic Name c.[334A>T(;)871T>G]
Protein name p.[Lys112*(;)Ser291Ala]
Mutation type nonsense, missense
Domain MBD, TRD
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.[334A>T(;)871T>G] p.[Lys112*(;)Ser291Ala] nonsense, missense MBD, TRD Mutation associated with disease Female Rett syndrome-Classical 4230 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