Variant information

Systematic Name [c.897C>T (+) c.(378_1461)_(378_1461)del]
Protein name [p.Thr299Thr (+) p.(Asn126+Ser486)fs]
Mutation type Frameshift insertion or deletion
Domain Not known
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Yes
Carrier result Mother is carrier of silent polymorphism
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 [c.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Frameshift insertion or deletion Not known Mutation associated with disease Female Rett syndrome-Classical 2088 :Cardiff, UK::