Proband information
Proband id | 4344 |
---|---|
Systematic Name (NM_004992.3:) |
c.1160_1166del7 |
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1196_1202del7 |
Alternate Protein name (NP_001104262) |
p.(Pro399Leufs*20) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296113_153296119del7 |
Mutation type | frameshift insertion or deletion |
Domain | 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 | N |
Carrier result | |
Other mutations | N |
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 | c.1160_1166del7 | p.Pro387fs | Female | Rett syndrome-Classical | 4344 | 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 | |
2 | c.1160_1166del7 | p.Pro387fs | Female | Rett syndrome-not certain | 4711 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 |