Variant information

Systematic Name
Protein name
"p.Arg306Cys, 3'UTR variation"
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense, 3'UTR variation
Domain TRD, 3'UTR
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" 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 View details