Variant information


Systematic Name c.1153_1190del38
Protein name p.Pro385fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection
Extent
Evidence of Pathogenicity
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
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.1153_1190del38 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 18 :Bunyan, D.::