Proband information


Proband id 4097
Systematic Name
(NM_004992.3:)		 c.482G>T
Protein name
(NP_004983)		 p.Gly161Val
Alternate systematic Name
(NM_001110792.1:)		 c.518G>T
Alternate Protein name
(NP_001104262)		 p.(Gly173Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296797C>A
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
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 Gender Carrier result Phenotype Proband id Reference
1 c.482G>T p.Gly161Val Female Neither parent has variation 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 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