Variant information


Systematic Name c.[1051_1065del15; 1088_1115del28; 1138_1207del70]
Protein name p.[Pro351_Ser355del; Lys363fs]
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.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3414 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972