Proband information
Proband id | 2865 |
---|---|
Systematic Name (NM_004992.3:) |
c.36G>C |
Protein name (NP_004983) |
p.Lys12Asn |
Alternate systematic Name (NM_001110792.1:) |
c.72G>C |
Alternate Protein name (NP_001104262) |
p.(Lys24Asn) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297999C>G |
Mutation type | missense |
Domain | N-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 200 chromosomes tested and not found in 200 chromosomes |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | NK |
Carrier | Y |
Carrier result | found in father |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.36G>C | p.Lys12Asn | Female | found in father | Rett syndrome-not certain | 2865 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
2 | c.36G>C | p.Lys12Asn | Male | in daughter with RTT | Not Rett synd. | 4046 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |