Proband information


Proband id 4299
Systematic Name
(NM_004992.3:)		 c.[916C>T(;)*98dupA]
Protein name
(NP_004983)		 "p.Arg306Cys, 3'UTR variation"
Alternate systematic Name
(NM_001110792.1:)		 c.[952C>T;*98dupA]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296363G>A;153295720dupT]
Mutation type missense, 3'UTR variation
Domain TRD, 3'UTR
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" Female de novo 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