Proband information


Proband id 1153
Systematic Name
(NM_004992.3:)		 c.1159_1210del52
Protein name
(NP_004983)		 p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)		 c.1195_1246del52
Alternate Protein name
(NP_001104262)		 p.(Pro399Serfs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296069_153296120del52
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-Angelman syndrome
Reference Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1159_1210del52 p.Pro387fs Female Not Rett synd. 1153 Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202