Variant information

Systematic Name c.1210G>A
Protein name p.Glu404Lys
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 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.1210G>A p.Glu404Lys missense C-term Unknown Female Rett syndrome-classical 6579 :::