Variant information


Systematic Name
(NM_004992.3:)		 c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]
Protein name
(NP_004983)		 p.Lys377fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1165_1169delinsGAGT;1191_1236del46]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296146_153296150delinsACTC;153296079_153296124del46]
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] p.Lys377fs Female Rett syndrome-not certain 3356 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details