Proband information



Proband id 6614
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
Detection direct
Extent all exons
Carrier Y
Carrier result in daughter with classic RTT
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
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 :::