Variant information


Systematic Name c.1316C>T
Protein name p.Ala439Val
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Asymptomatic mother carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1316C>T p.Ala439Val missense C-term Polymorphism not causing disease Female Not Rett synd. 6909 :::