Variant information


Systematic Name c.1168_1173del6
Protein name p.Pro390_Pro391del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA not known
Detection SSCP
Extent all coding regions
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Not certain 4 :Bunyan, D.::
2 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Not Known 2049 :::
3 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 2068 :::
4 c.1168_1173del6 p.Pro390_Pro391del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Not certain 2191 :Cardiff, UK::
5 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-atypical 2891 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
6 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 5250 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494
7 c.1168_1173del6 frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6865 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
8 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6650 :::
9 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6649 :::
10 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Female Not Rett synd. 6648 :::
11 c.1168_1173del6 p.Pro390_Pro391del frameshift insertion or deletion C-term Unknown Male Not Rett synd. 6647 :::
12 c.1168_1173del6 p.Pro390_Pro391del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 6614 :::