Proband information


Proband id 4397
Systematic Name
(NM_004992.3:)		 c.[834C>T(;) 856_859delAAAG(;) 1180G>A]
Protein name
(NP_004983)		 p.[Ala278Ala(;) Lys286fs(;) Glu394Lys]
Alternate systematic Name
(NM_001110792.1:)		 c.[870C>T;892_895delAAAG;1216G>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296445G>A;153296420_153296423delCTTT;153296099C>T]
Mutation type silent, frameshift insertion or deletion, missense
Domain TRD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection SSCP
Extent 90% coding sequence of MECP2
Source of DNA blood
Carrier Y
Carrier result negative
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] Female negative Rett syndrome-classical 4397 :Khajuria, R.::