Proband information


Proband id 1247
Systematic Name
(NM_004992.3:)		 c.531delA
Protein name
(NP_004983)		 p.Lys177fs
Alternate systematic Name
(NM_001110792.1:)		 c.567delA
Alternate Protein name
(NP_001104262)		 p.(Lys189Asnfs*33)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296748delT
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 NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.531delA p.Lys177fs Female Rett syndrome-Not certain 1247 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485