Proband information
Proband id | 1302 |
---|---|
Systematic Name (NM_004992.3:) |
c.905C>G |
Protein name (NP_004983) |
p.Pro302Arg |
Alternate systematic Name (NM_001110792.1:) |
c.941C>G |
Alternate Protein name (NP_001104262) |
p.(Pro314Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296374G>C |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Mutation not carried by parents |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Not certain |
Reference | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-Not certain | 11 | :Bunyan, D.:: | |
2 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-Not certain | 26 | :Bunyan, D.:: | |
3 | c.905C>G | p.Pro302Arg | Unknown | Rett syndrome-Not certain | 232 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | |
4 | c.905C>G | p.Pro302Arg | Unknown | Rett syndrome-Not certain | 233 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | |
5 | c.905C>G | p.Pro302Arg | Female | Neither parent has variation | Rett syndrome-Classical | 938 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
6 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-Not certain | 1171 | Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 | |
7 | c.905C>G | p.Pro302Arg | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1302 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
8 | c.905C>G | p.Pro302Arg | Unknown | Mutation not carried by parents | Rett syndrome-Not certain | 1303 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
9 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-Not certain | 2175 | :Cardiff, UK:: | |
10 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-Not certain | 2176 | :Cardiff, UK:: | |
11 | c.905C>G | p.Pro302Arg | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2450 | ::: |
12 | c.905C>G | p.Pro302Arg | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2466 | ::: |
13 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-classical | 3398 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | |
14 | c.905C>G | p.Pro302Arg | Female | de novo | Rett syndrome-classical | 3678 | 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 |
15 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-not certain | 4920 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | |
16 | c.905C>G | p.Pro302Arg | Female | Rett syndrome-classical | 7036 | MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 |