Variant information


Systematic Name
(NM_004992.3:)		 c.1065C>A
Protein name
(NP_004983)		 p.Ser355Arg
Alternate systematic Name
(NM_001110792.1:)		 c.1101C>A
Alternate Protein name
(NP_001104262)		 p.(Ser367Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296214G>T
Mutation type missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1065C>A p.Ser355Arg Female Rett syndrome-classical 4802 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684 View details