Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.815C>T p.Pro272Leu Female Rett syndrome-Not certain 1652 ::: View details
2 c.815C>T p.Pro272Leu Male Not Rett synd. 1653 ::: View details
3 c.815C>T p.Pro272Leu Female Not Rett synd. 1654 ::: View details
4 c.815C>T p.Pro272Leu Female Rett syndrome-Atypical 2127 :Cardiff, UK:: View details
5 c.815C>T p.Pro272Leu Female 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 View details
6 c.815C>T p.Pro272Leu 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 View details
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 View details
8 c.815C>T p.Pro272Leu Male 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 View details