Variant information


Systematic Name MECP2_e1: c.48C>T (r.48_63del)
Protein name MeCP2_e1: p.Glu17Lysfs*22
Mutation type splicing
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not certain
Detection not stated
Extent not certain
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient:Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.:Orphanet Journal of Rare Disorders: 23866855

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Female Rett syndrome-classical 5233 A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient:Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.:Orphanet Journal of Rare Disorders: 23866855