Proband information


Proband id 4230
Systematic Name
(NM_004992.3:)		 c.[334A>T(;)871T>G]
Protein name
(NP_004983)		 p.[Lys112*(;)Ser291Ala]
Alternate systematic Name
(NM_001110792.1:)		 c.[370A>T;907T>G]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297701T>A;153296408A>C]
Mutation type nonsense, missense
Domain MBD, TRD
Pathogenicity Mutation associated with disease
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.[334A>T(;)871T>G] p.[Lys112*(;)Ser291Ala] 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