Proband information


Proband id 2530
Systematic Name
(NM_004992.3:)		 c.964C>T
Protein name
(NP_004983)		 p.Pro322Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1000C>T
Alternate Protein name
(NP_001104262)		 p.(Pro334Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296315G>A
Mutation type Missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Not certain
Source of DNA Not known
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Borderline low IQ
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 Gender Carrier result Phenotype Proband id Reference
1 c.964C>T p.Pro322Ser Male Borderline affected mother with random X-inactivation has variation, neither maternal grandparent has variation, unaffected sister not screened 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 Female Relative of proband 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