Variant information


Systematic Name c.953A>C
Protein name p.Glu318Ala
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-classical
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.953A>C p.Glu318Ala Missense C-term Unknown Female Rett syndrome-classical 1707 :Friez, Michael::
2 c.953A>C p.Glu318Ala Missense C-term Unknown Female Rett syndrome-atypical 1945 :Schanen, C.:: 15057977