Proband information
Proband id | 5250 |
---|---|
Systematic Name (NM_004992.3:) |
c.1168_1173del6 |
Protein name (NP_004983) |
p.Pro390_Pro391del |
Alternate systematic Name (NM_001110792.1:) |
c.1204_1209del6 |
Alternate Protein name (NP_001104262) |
p.(Pro402_Pro403del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296106_153296111del6 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | not stated |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1168_1173del6 | p.Pro390_Pro391del | Female | Rett syndrome-Not certain | 4 | :Bunyan, D.:: | |
2 | c.1168_1173del6 | p.Pro390_Pro391del | Female | Father has variation | Not Known | 2049 | ::: |
3 | c.1168_1173del6 | p.Pro390_Pro391del | Male | Relative of proband | Not Rett synd. | 2068 | ::: |
4 | c.1168_1173del6 | p.Pro390_Pro391del | Female | Rett syndrome-Not certain | 2191 | :Cardiff, UK:: | |
5 | c.1168_1173del6 | p.Pro390_Pro391del | Female | de novo | 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 | 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 | Female | mother - heterozygous, father - negative | 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 | Female | de novo | Not Rett synd. | 6650 | ::: |
9 | c.1168_1173del6 | p.Pro390_Pro391del | Female | familial | Not Rett synd. | 6649 | ::: |
10 | c.1168_1173del6 | p.Pro390_Pro391del | Female | familial | Not Rett synd. | 6648 | ::: |
11 | c.1168_1173del6 | p.Pro390_Pro391del | Male | familial | Not Rett synd. | 6647 | ::: |
12 | c.1168_1173del6 | p.Pro390_Pro391del | Male | in daughter with classic RTT | Not Rett synd. | 6614 | ::: |