Proband information
Proband id | 1569 |
---|---|
Systematic Name (NM_004992.3:) |
c.[984C>T; 1161_1163del] |
Protein name (NP_004983) |
p.[Leu328Leu; Pro391del] |
Alternate systematic Name (NM_001110792.1:) |
c.[1020C>T;1197_1199del] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296295G>A;153296116_153296118del] |
Mutation type | Silent, in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Fragment containing mutation found in relative |
Source of DNA | Blood |
Carrier | NA |
Carrier result | Relative of proband |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | Familial |
Phenotype-class | Not Rett synd.-Unaffected family member |
Reference | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Female | Unaffected sister 257-II-2 is carrier of both variations, affected brother 257-II-3 not a carrier, unaffected father 257-I-2 is carrier of both variations | Not Rett synd. | 1567 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
2 | c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Female | Relative of proband | Not Rett synd. | 1568 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
3 | c.[984C>T; 1161_1163del] | p.[Leu328Leu; Pro391del] | Male | Relative of proband | Not Rett synd. | 1569 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |