Variant information


Systematic Name c.1158_1198del41
Protein name p.Pro387fs
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.1158_1198del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3416 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972
2 c.1158_1198del41 p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3417 Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region:Lebo RV, Ikuta T, Milunsky JM, Milunsky A:Clinical Genetics: 11453972