Proband information
Proband id | 1942 |
---|---|
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 | Y |
Carrier result | Neither parent has variation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-atypical |
Reference | 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 |
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 |