Proband information



Proband id 6907
Systematic Name c.426C>T
Protein name p.Phe142Phe
Mutation type missense
Domain MBD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection MPS
Extent
Source of DNA blood
Carrier NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Not certain 45 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Rett syndrome-Atypical 364 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
3 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 365 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
4 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Male Not Rett synd. 1885 :::
5 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2505 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
6 c.426C>T p.Phe142Phe Silent MBD Silent polymorphism Female Not Rett synd. 2506 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation:Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J.:American Journal of Human Genetics: 15492925
7 c.426C>T p.Phe142Phe silent MBD Silent polymorphism Unknown Not Rett synd. 4622 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
8 c.426C>T p.Phe142Phe missense MBD Silent polymorphism Male Not Rett synd. 6907 :::