Proband information


Proband id 1707
Systematic Name
(NM_004992.3:)		 c.953A>C
Protein name
(NP_004983)		 p.Glu318Ala
Alternate systematic Name
(NM_001110792.1:)		 c.989A>C
Alternate Protein name
(NP_001104262)		 p.(Glu330Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296326T>G
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NC
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 Gender Carrier result Phenotype Proband id Reference
1 c.953A>C p.Glu318Ala Female Rett syndrome-classical 1707 :Friez, Michael::
2 c.953A>C p.Glu318Ala Female Rett syndrome-atypical 1945 :Schanen, C.:: 15057977