Proband information
Proband id | 2818 |
---|---|
Systematic Name (NM_004992.3:) |
c.965C>T |
Protein name (NP_004983) |
p.Pro322Leu |
Alternate systematic Name (NM_001110792.1:) |
c.1001C>T |
Alternate Protein name (NP_001104262) |
p.(Pro334Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296314G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | promoter and exons 1-4 |
Source of DNA | blood |
Carrier | NC |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | NK |
Phenotype-class | Rett syndrome-classical |
Reference | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-Not certain | 79 | 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.965C>T | p.Pro322Leu | Female | Rett syndrome-Classical | 2178 | :Cardiff, UK:: | |
3 | c.965C>T | p.Pro322Leu | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2424 | ::: |
4 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-classical | 2818 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | |
5 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-not certain | 3165 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
6 | c.965C>T | p.Pro322Leu | Female | de novo | Rett syndrome-not certain | 3564 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
7 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-Classical | 4287 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | |
8 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-classical | 6349 | ::: | |
9 | c.965C>T | p.Pro322Leu | Female | Rett syndrome-classical | 6348 | ::: |