Variant information


Systematic Name c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]
Protein name p.Pro376fs
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 N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
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.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1603 :Bunyan, D.::