Variant information

Systematic Name c.[1104_1106del3(;) 1157_1197del41]
Protein name p.[His372del(;) Leu386fs]
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 N
Carrier result
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.[1104_1106del3(;) 1157_1197del41] p.[His372del(;) Leu386fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6676 :::