Variant information


Systematic Name c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]
Protein name p.Glu348fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exon 4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8] p.Glu348fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3413 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972