Proband information


Proband id 4103
Systematic Name
(NM_004992.3:)
c.755dupG
Protein name
(NP_004983)
p.Arg253fs
Alternate systematic Name
(NM_001110792.1:)
c.791dupG
Alternate Protein name
(NP_001104262)
p.(Arg265Glnfs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296524dupC
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result in brother with atypical RTT, not in mother
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.755dupG p.Arg253fs Female in brother with atypical RTT, not in mother Rett syndrome-classical 4103 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
2 c.755dupG p.Arg253fs Male in sister with classical RTT, not in mother Rett syndrome-male variant 4104 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578