Variant information

Systematic Name c.506_507dupAG
Protein name p.Gln170fs
Mutation type frameshift insertion or deletion
Domain Inter-domain
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 Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-inf enceph
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.506_507dupAG p.Gln170fs frameshift insertion or deletion Inter-domain Mutation associated with disease Male Not Rett synd. 6638 :::