Proband information


Proband id 4882
Systematic Name
(NM_004992.3:)		 c.909C>G
Protein name
(NP_004983)		 p.Ile303Met
Alternate systematic Name
(NM_001110792.1:)		 c.945C>G
Alternate Protein name
(NP_001104262)		 p.(Ile315Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296370G>C
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result de novo, but not in brother with speech delay
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-nonspecific mental retardation
Reference Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.909C>G p.Ile303Met Female Not Rett synd. 2977 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
2 c.909C>G p.Ile303Met Female de novo, but not in brother with speech delay Not Rett synd. 4882 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191