Proband information


Proband id 5243
Systematic Name
(NM_004992.3:)
c.[203C>G;1094_1138del45]
Protein name
(NP_004983)
p.Ser68*
Alternate systematic Name
(NM_001110792.1:)
c.[239C>G;1130_1174del45]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153297832G>C;153296141_153296185del45]
Mutation type nonsense, in-frame insertion or deletion
Domain N-term, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent not stated
Source of DNA blood
Carrier Y
Carrier result both mutations are de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[203C>G;1094_1138del45] p.Ser68* Female both mutations are de novo Rett syndrome-not certain 5243 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494