Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.36G>C p.Lys12Asn 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 View details
2 c.36G>C p.Lys12Asn 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 View details