Proband information



Proband id 2068
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
Evidence of Pathogenicity
Detection direct
Extent Fragment containing mutation found in relative
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
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 :::