Variant information


Systematic Name c.36G>C
Protein name p.Lys12Asn
Mutation type missense
Domain N-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA NK
Detection direct
Extent exons 2-4
Number of chromosomes checked 200 chromosomes tested and not found in 200 chromosomes
Carrier status checked Yes
Carrier result in daughter with RTT
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.36G>C p.Lys12Asn missense N-term Polymorphism not causing disease Female 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 missense N-term Polymorphism not causing disease Male 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