Variant information


Systematic Name c.1132G>T
Protein name p.Ala378Ser
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result in son with developmental delay
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial 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.1132G>T p.Ala378Ser missense C-term Unknown Female Not Rett synd. 6581 :::
2 c.1132G>T p.Ala378Ser missense C-term Unknown Male Not Rett synd. 6580 :::