Variant information


Systematic Name c.1373G>A
Protein name p.Arg458His
Mutation type missense
Domain c-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA not certain
Detection direct
Extent exons 1-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1373G>A p.Arg458His missense c-term Polymorphism not causing disease Male Not Rett synd. 3876 Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657