Proband information


Proband id 5239
Systematic Name
(NM_004992.3:)		 c.[378-109A>G;518C>G]
Protein name
(NP_004983)		 p.Pro173Arg
Alternate systematic Name
(NM_001110792.1:)		 c.[414-109A>G;554C>G]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153297010T>C;153296761G>C]
Mutation type intronic variation, missense
Domain intronic, inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent not stated
Source of DNA blood
Carrier N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[378-109A>G;518C>G] p.Pro173Arg Female Not Rett synd. 5239 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494