Variant information


Systematic Name c.428_429insT
Protein name p.Glu143fs
Mutation type Frameshift insertion or deletion
Domain MBD
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.428_429insT p.Glu143fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Not certain 1641 :Bunyan, D.::