Proband information


Proband id 286
Systematic Name
(NM_004992.3:)		 c.1156_1200del45
Protein name
(NP_004983)		 p.Leu386_Thr400del
Alternate systematic Name
(NM_001110792.1:)		 c.1192_1236del45
Alternate Protein name
(NP_001104262)		 p.(Leu398_Thr412del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296079_153296123del45
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
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.1156_1200del45 p.Leu386_Thr400del Female Neither parent is carrier Rett syndrome-Not certain 286 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