Proband information
Proband id | 4103 |
---|---|
Systematic Name (NM_004992.3:) |
c.755dupG |
Protein name (NP_004983) |
p.Arg253fs |
Alternate systematic Name (NM_001110792.1:) |
c.791dupG |
Alternate Protein name (NP_001104262) |
p.(Arg265Glnfs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296524dupC |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | in brother with atypical RTT, not in mother |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | familial |
Phenotype-class | Rett syndrome-classical |
Reference | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.755dupG | p.Arg253fs | Female | in brother with atypical RTT, not in mother | Rett syndrome-classical | 4103 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
2 | c.755dupG | p.Arg253fs | Male | in sister with classical RTT, not in mother | Rett syndrome-male variant | 4104 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |