Proband information


Proband id 1930
Systematic Name
(NM_004992.3:)		 c.739delG
Protein name
(NP_004983)		 p.Val247fs
Alternate systematic Name
(NM_001110792.1:)		 c.775delG
Alternate Protein name
(NP_001104262)		 p.(Val259*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296540delC
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-classical
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.739delG p.Val247fs Female Rett syndrome-classical 1930 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