Proband information


Proband id 1367
Systematic Name
(NM_004992.3:)		 c.1097_*13del378
Protein name
(NP_004983)		 p.His366_Ser486delins22
Alternate systematic Name
(NM_001110792.1:)		 c.1133_*13del378
Alternate Protein name
(NP_001104262)		 p.(His378_Ser498delinsArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295805_153296182del378
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1097_*13del378 p.His366_Ser486delins22 Unknown Rett syndrome-Not certain 1367 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840