Proband information


Proband id 122
Systematic Name
(NM_004992.3:)		 c.[965C>T(;)999G>T]
Protein name
(NP_004983)		 p.[Pro322Leu(;)Gly333Gly]
Alternate systematic Name
(NM_001110792.1:)		 c.[1001C>T;1035G>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296314G>A;153296280C>A]
Mutation type Missense, silent
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Parents do not have c.965C>T variation, carrier status with respect to c.999G>T silent polymorphism not known
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[965C>T(;)999G>T] p.[Pro322Leu(;)Gly333Gly] Female Parents do not have c.965C>T variation, carrier status with respect to c.999G>T silent polymorphism not known Rett syndrome-Not certain 122 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718