Variant information

Systematic Name c.1229G>A
Protein name p.Ser410Asn
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
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 :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1229G>A p.Ser410Asn Missense C-term Unknown Female Rett syndrome-Classical 2125 :Cardiff, UK::