Proband information


Proband id 4288
Systematic Name
(NM_004992.3:)		 c.[1233C>T(;)1460G>T]
Protein name
(NP_004983)		 p.[Ser411Ser(;)*487Leuext*27]
Alternate systematic Name
(NM_001110792.1:)		 c.[1269C>T;1496G>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296046G>A;153295819C>A]
Mutation type silent, non-stop
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA lymphocytes
Carrier 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 Gender Carrier result Phenotype Proband id Reference
1 c.[1233C>T(;)1460G>T] p.[Ser411Ser(;)*487Leuext*27] Female Rett syndrome-Classical 4288 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