Variant information


Systematic Name c.482G>T
Protein name p.Gly161Val
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.482G>T p.Gly161Val Missense MBD Unknown Female Rett syndrome-atypical 1942 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
2 c.482G>T p.Gly161Val missense MBD Unknown Female Rett syndrome-classical 4097 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578