Variant information


Systematic Name p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]
Protein name p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=]
Mutation type intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion
Domain intronic, C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result mother has c.378-17delT, other variations absent in mother
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] intronic variation, in-frame insertion or deletion, missense, frameshift insertion or deletion intronic, C-term Mutation associated with disease 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