Proband information
Proband id | 3358 |
---|---|
Systematic Name (NM_004992.3:) |
c.1145_1194del50 |
Protein name (NP_004983) |
p.Leu382fs |
Alternate systematic Name (NM_001110792.1:) |
c.1181_1230del50 |
Alternate Protein name (NP_001104262) |
p.(Leu394Profs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296085_153296134del50 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood or fibroblasts |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1145_1194del50 | p.Leu382fs | Unknown | Rett syndrome-Classical | 914 | ::: | |
2 | c.1145_1194del50 | p.Leu382fs | Female | de novo | Rett syndrome-classical | 3358 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 |