Variant information
Systematic Name (NM_004992.3:) |
c.1205C>T |
---|---|
Protein name (NP_004983) |
p.Pro402Leu |
Alternate systematic Name (NM_001110792.1:) |
c.1241C>T |
Alternate Protein name (NP_001104262) |
p.(Pro414Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296074G>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1205C>T | p.Pro402Leu | Male | Not Rett synd. | 1578 | 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 | View details |
2 | c.1205C>T | p.Pro402Leu | Female | Not Rett synd. | 1579 | 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 | View details |
3 | c.1205C>T | p.Pro402Leu | Male | Not Rett synd. | 1580 | 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 | View details |
4 | c.1205C>T | p.Pro402Leu | Female | Not Rett synd. | 1581 | 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 | View details |
5 | c.1205C>T | p.Pro402Leu | Female | Not Rett synd. | 1582 | 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 | View details |