Variant information

Systematic Name c.[964C>G(;)*98dupA]
Protein name p.Pro322Ala
Mutation type missense, 3'UTR variation
Domain C-term
Pathogenicity Unknown

Proband information

Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result p.P322A de novo, *98dupA in unaffected mother
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.[964C>G(;)*98dupA] p.Pro322Ala missense, 3'UTR variation C-term Unknown Female Rett syndrome-classical 6346 :::