Variant information


Systematic Name MECP2_e1: c.59_60delGA
Protein name MeCP2_e1: p.R20Tfs*40
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA not known
Detection direct
Extent exon1
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1:Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.:Clinical Sciences: 17101000

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-classical 2781 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1:Chunshu, Y., Endoh, K., Soutome, M., Kawamura, R., Kubota, T.:Clinical Sciences: 17101000