Proband information


Proband id 3412
Systematic Name
(NM_004992.3:)
c.470_471delTC
Protein name
(NP_004983)
p.Phe157fs
Alternate systematic Name
(NM_001110792.1:)
c.506_507delTC
Alternate Protein name
(NP_001104262)
p.(Phe169Tyrfs*17)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296808_153296809delGA
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DGGE
Extent exons2-4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-preserved speech
Reference Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.470_471delTC p.Phe157fs Female Rett syndrome-preserved speech 3412 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864