Proband information
Proband id | 4713 |
---|---|
Systematic Name (NM_004992.3:) |
c.[276_277insG(;) 1162_1179del18] |
Protein name (NP_004983) |
p.[Pro94fs(;) Pro388_Pro393del] |
Alternate systematic Name (NM_001110792.1:) |
c.[312_313insG;1198_1215del18] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297758_153297759insC;153296100_153296117del18] |
Mutation type | frameshift insertion or deletion, in-frame insertion or deletion |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | P94fs de novo, P388_P393 in healthy father |
Other mutations | Y |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[276_277insG(;) 1162_1179del18] | p.[Pro94fs(;) Pro388_Pro393del] | Female | P94fs de novo, P388_P393 in healthy father | Rett syndrome-not certain | 4713 | 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 |