Proband information
Proband id | 4106 |
---|---|
Systematic Name (NM_004992.3:) |
c.1128_1179del52 |
Protein name (NP_004983) |
p.Lys377fs |
Alternate systematic Name (NM_001110792.1:) |
c.1164_1215del52 |
Alternate Protein name (NP_001104262) |
p.(Lys389Argfs*15) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296100_153296151del52 |
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 |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Not Known |
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.1128_1179del52 | p.Lys377fs | Female | Not Known | 4106 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |