Variant information


Systematic Name c.[916C>T(;)*98dupA]
Protein name "p.Arg306Cys, 3'UTR variation"
Mutation type missense, 3'UTR variation
Domain TRD, 3'UTR
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" missense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Female Rett syndrome-classical 4299 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224