Proband information


Proband id 4247
Systematic Name
(NM_004992.3:)		 c.400T>C
Protein name
(NP_004983)		 p.Ser134Pro
Alternate systematic Name
(NM_001110792.1:)		 c.436T>C
Alternate Protein name
(NP_001104262)		 p.(Ser146Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296879A>G
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA lymphocytes
Carrier N
Carrier result
Other mutations N
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.400T>C p.Ser134Pro Female Rett syndrome-Classical 4247 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