Variant information


Systematic Name c.[1373G>A; 1448_*29del43]
Protein name p.[Arg458His; Glu483fs]
Mutation type frameshift insertion or deletion, missense
Domain c-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not certain
Detection direct
Extent exons 1-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result R458H from unaffected father, deletion on same allele
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-not certain
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; 1448_*29del43] p.[Arg458His; Glu483fs] frameshift insertion or deletion, missense c-term Mutation associated with disease Female Rett syndrome-not certain 3875 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