Variant information


Systematic Name c.26+2T>A
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
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 Y
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.26+2T>A intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Not certain 1629 :Bunyan, D.::