Proband information


Proband id 1362
Systematic Name
(NM_004992.3:)
c.1163_*39del338
Protein name
(NP_004983)
p.Pro388fs
Alternate systematic Name
(NM_001110792.1:)
c.1199_*39del338
Alternate Protein name
(NP_001104262)
p.(Pro400_Ser498delinsGlnArgGlnLeuLeuSerLeuLeuLeuMetGlyArgAlaLeuThrLysLeuProAsp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295779_153296116del338
Mutation type Frameshift 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.1163_*39del338 p.Pro388fs Unknown Rett syndrome-Not certain 1362 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