Proband information
Proband id | 3930 |
---|---|
Systematic Name (NM_004992.3:) |
c.815C>T |
Protein name (NP_004983) |
p.Pro272Leu |
Alternate systematic Name (NM_001110792.1:) |
c.851C>T |
Alternate Protein name (NP_001104262) |
p.(Pro284Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296464G>A |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exon 1-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.815C>T | p.Pro272Leu | Female | Unaffected nonmosaic father carrier, unaffected sister carrier | Rett syndrome-Not certain | 1652 | ::: |
2 | c.815C>T | p.Pro272Leu | Male | Relative of proband | Not Rett synd. | 1653 | ::: |
3 | c.815C>T | p.Pro272Leu | Female | Relative of proband | Not Rett synd. | 1654 | ::: |
4 | c.815C>T | p.Pro272Leu | Female | Rett syndrome-Atypical | 2127 | :Cardiff, UK:: | |
5 | c.815C>T | p.Pro272Leu | Female | paternal | Rett syndrome-Classical | 2634 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
6 | c.815C>T | p.Pro272Leu | Male | present in healthy male | Not Rett synd. | 2768 | MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 |
7 | c.815C>T | p.Pro272Leu | Female | Not Rett synd. | 3930 | MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients:Moog, U., Van Roozendaal, K., Smeets, E., Tserpelis, D., Devriendt, K., Van Buggenhout, G., Frijns, J.-P., Schrander-Stumpel, C.:Brain & Development: 16376510 | |
8 | c.815C>T | p.Pro272Leu | Male | paternal | Not Rett synd. | 3977 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |