Proband information
Proband id | 3356 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] |
Protein name (NP_004983) |
p.Lys377fs |
Alternate systematic Name (NM_001110792.1:) |
c.[1165_1169delinsGAGT;1191_1236del46] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296146_153296150delinsACTC;153296079_153296124del46] |
Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | lymphoblastoid cell lines |
Carrier | |
Carrier result | NK |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | NK |
Phenotype-class | Rett syndrome-not certain |
Reference | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[1129_1133delAAGGCinsGAGT; 1155_1200del46] | p.Lys377fs | Female | NK | Rett syndrome-not certain | 3356 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |