Variant information


Systematic Name c.1161_1205del45insA
Protein name p.Pro389*
Mutation type Frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection DHPLC
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent has variation
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.1161_1205del45insA p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1856 :Bunyan, D.::