Proband information
Proband id | 4335 |
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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:) |
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Alternate Protein name (NP_001104262) |
|
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 |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
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 | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T] | p.[Pro389_Pro391del;Pro393Leu;Glu394fs];[=] | Female | mother has c.378-17delT, other variations absent in mother | 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 |