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
Number of chromosomes checked
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 :::