Variant information

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

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] 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 View details