Variant information


Systematic Name c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]
Protein name p.[Ser360del(;) Pro381Leu(;) Leu386fs]
Mutation type frameshift insertion or deletion, missense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent four exons
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel double deletions in the MECP2 gene in Tunisian Rett patient:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh, F.:Gene: 22561697

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] frameshift insertion or deletion, missense C-term Mutation associated with disease Female Rett syndrome-classical 4902 Novel double deletions in the MECP2 gene in Tunisian Rett patient:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh, F.:Gene: 22561697