Proband information


Proband id 287
Systematic Name
(NM_004992.3:)		 c.1039_1195del157insGT
Protein name
(NP_004983)		 p.Lys347fs
Alternate systematic Name
(NM_001110792.1:)		 c.1075_1231delinsGT
Alternate Protein name
(NP_001104262)		 p.(Lys359Valfs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296084_153296240delinsAC
Mutation type Frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier Y
Carrier result Neither parent is carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1039_1195del157insGT p.Lys347fs Female Neither parent is carrier Rett syndrome-Not certain 287 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679