Proband information


Proband id 4300
Systematic Name
(NM_004992.3:)		 c.*92C>G
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*92C>G
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295726G>C
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
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.*92C>G 3'UTR variation Female Rett syndrome-classical 4300 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