Variant information
Systematic Name (NM_004992.3:) |
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] |
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Protein name (NP_004983) |
p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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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 |
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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 |