Variant information
Systematic Name (NM_004992.3:) |
c.419C>T |
---|---|
Protein name (NP_004983) |
p.Ala140Val |
Alternate systematic Name (NM_001110792.1:) |
c.455C>T |
Alternate Protein name (NP_001104262) |
p.(Ala152Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296860G>A |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 218 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
2 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 219 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
3 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 220 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
4 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 221 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
5 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 222 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
6 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 223 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
7 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1014 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 | View details |
8 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1015 | MECP2 is highly mutated in X-linked mental retardation:Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel and Cherif, Beldjord:Human Molecular Genetics: 11309367 | View details |
9 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 1265 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
10 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1266 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
11 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 1267 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
12 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1268 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
13 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1269 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
14 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1270 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
15 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 1271 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
16 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1272 | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome:Klauck, Sabine M., Lindsay, Susan, Beyer, Kim S., Splitt, Miranda, Burn, John, and Poustka, Annemarie:American Journal of Human Genetics: 11885030 | View details |
17 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 1966 | MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708 | View details |
18 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 1967 | MECP2 mutation in a boy with language disorder and schizophrenia:Cohen, David, Lazar, Gabriela, Couvert, Philippe, Desportes, Vincent, Lippe, Didier, Mazet, Philippe, Héron, Delphine:American Journal of Psychiatry: 11772708 | View details |
19 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 5302 | Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation:Venkateswaran, S., McMillan, H.J., Doja, A., Humphreys, P.:Developmental Medicine & Child Neurology: 24328834 | View details |
20 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4093 | Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931 | View details |
21 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 4398 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
22 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 4399 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
23 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 4400 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
24 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 4401 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
25 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4402 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
26 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4403 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
27 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4404 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
28 | c.419C>T | p.Ala140Val | Female | Not Rett synd. | 4405 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation ni the MECP2 gene: is there a need for routine screening?:Winnepenninckx, B., Errijgers, V., Hayez-Delatte, F., Reyniers, E., Kooy, R.F.:Human Mutation: 12325019 | View details |
29 | c.419C>T | p.Ala140Val | Male | Not Rett synd. | 6913 | ::: | View details |