Variant information


Systematic Name c.345delC
Protein name p.Ser116fs
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection DGGE
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Mother does not have variation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.345delC p.Ser116fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Classical 1201 Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737