Variant information
Systematic Name (NM_004992.3:) |
c.401C>T |
---|---|
Protein name (NP_004983) |
p.Ser134Phe |
Alternate systematic Name (NM_001110792.1:) |
c.437C>T |
Alternate Protein name (NP_001104262) |
p.(Ser146Phe) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296878G>A |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.401C>T | p.Ser134Phe | Female | Not Known | 1740 | :Friez, Michael:: | View details |
2 | c.401C>T | p.Ser134Phe | Female | Rett syndrome-classical | 2986 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | View details |
3 | c.401C>T | p.Ser134Phe | Female | Rett syndrome-classical | 3624 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
4 | c.401C>T | p.Ser134Phe | Female | Rett syndrome-not certain | 4737 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |
5 | c.401C>T | p.Ser134Phe | Female | Rett syndrome-classical | 6594 | ::: | View details |