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