Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1373G>A; 1448_*29del43] p.[Arg458His; Glu483fs] 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 View details