Proband information


Proband id 3872
Systematic Name
(NM_004992.3:)		 c.810_813delAAAG
Protein name
(NP_004983)		 p.Lys271fs
Alternate systematic Name
(NM_001110792.1:)		 c.846_849delAAAG
Alternate Protein name
(NP_001104262)		 p.(Lys283Argfs*17)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296466_153296469delCTTT
Mutation type frameshift insertion or deletion
Domain TRD
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 mother normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome:Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.:Genetic Testing and Molecular Biomarkers: 19309283

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.810_813delAAAG p.Lys271fs Female mother normal Rett syndrome-classical 3872 A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome:Fendri-Kriaa, N., Abdelkafi,Z., Rebeh, I.B., Kamoun, F., Triki, C., Fakhfakh, F.:Genetic Testing and Molecular Biomarkers: 19309283