Variant information

Systematic Name c.611C>A
Protein name p.Ser204*
Mutation type nonsense
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 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.611C>A p.Ser204* nonsense inter-domain Mutation associated with disease Female Rett syndrome-classical 6587 :::