Proband information


Proband id 4102
Systematic Name
(NM_004992.3:)		 c.495delC
Protein name
(NP_004983)		 p.Ser166fs
Alternate systematic Name
(NM_001110792.1:)		 c.531delC
Alternate Protein name
(NP_001104262)		 p.(Ser178Profs*44)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296784delG
Mutation type frameshift insertion or deletion
Domain inter-domain region
Pathogenicity Mutation associated with disease
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 Not Known
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.495delC p.Ser166fs Female Not Known 4102 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578