Variant information

Systematic Name c.229_238del10
Protein name p.Ala77fs
Mutation type frameshift insertion or deletion
Domain MBD
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
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.229_238del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Female Not Known 1713 :Friez, Michael::
2 c.229_238del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 6640 :::