Variant information


Systematic Name c.1193A>C
Protein name p.Asp398Ala
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 NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1193A>C p.Asp398Ala missense C-term Polymorphism not causing disease Male Not Rett synd. 6910 :::