Variant information


Systematic Name
(NM_004992.3:)		 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]
Protein name
(NP_004983)		 p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion
Domain intronic, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] Female Rett syndrome-Classical 4335 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details