Variant information

Systematic Name c.961A>G
Protein name p.Lys321Glu
Mutation type missense
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 de novo
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.961A>G p.Lys321Glu missense C-term Unknown Female Rett syndrome-classical 6616 :::