Variant information


Systematic Name c.[1161_1166del6; 1180_1205del26]
Protein name p.[Pro390_Pro391del; Glu394fs]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result negative
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6675 :::