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
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
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.::