Variant information


Systematic Name c.964C>T
Protein name p.Pro322Ser
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Not known
Detection direct
Extent Not certain
Number of chromosomes checked
Carrier status checked Yes
Carrier result Borderline affected mother with random X-inactivation has variation, neither maternal grandparent has variation, unaffected sister not screened
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Sporadic mental retardation
Reference A novel familial MECP2 mutation in a young boy: Clinical and molecular findings:P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli:Neurology: 16966553

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.964C>T p.Pro322Ser Missense C-term Unknown Male Not Rett synd. 2529 A novel familial MECP2 mutation in a young boy: Clinical and molecular findings:P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli:Neurology: 16966553
2 c.964C>T p.Pro322Ser Missense C-term Unknown Female Not Rett synd. 2530 A novel familial MECP2 mutation in a young boy: Clinical and molecular findings:P. Ventura, R. Galluzzi, S.M. Bacca, R. Giorda, and A. Massagli:Neurology: 16966553