Proband information


Proband id 4392
Systematic Name
(NM_004992.3:)		 c.1452_1453dup
Protein name
(NP_004983)		 p.Val485fs
Alternate systematic Name
(NM_001110792.1:)		 c.1488_1489dup
Alternate Protein name
(NP_001104262)		 p.(Val497Glufs*28)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295826_153295827dup
Mutation type frameshift insertion or deletion
Domain 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 N
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.1452_1453dup p.Val485fs Female negative Rett syndrome-classical 4392 :Khajuria, R.::