Variant information


Systematic Name c.1123_1202del80
Protein name p.Ser375fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection DHPLC
Extent Exons 2-4
Evidence of Pathogenicity
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-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1123_1202del80 p.Ser375fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1863 :Bunyan, D.::