Proband information


Proband id 4250
Systematic Name
(NM_004992.3:)		 c.[398G>T(;)602C>T]
Protein name
(NP_004983)		 p.[Arg133Leu(;)Ala201Val]
Alternate systematic Name
(NM_001110792.1:)		 c.[434G>T;638C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296881C>A;153296677G>A]
Mutation type missense
Domain MBD, inter-domain region
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.[398G>T(;)602C>T] p.[Arg133Leu(;)Ala201Val] Female Rett syndrome-Classical 4250 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