Proband information


Proband id 5238
Systematic Name
(NM_004992.3:)		 c.[678delT];[378-109A>G;518C>G]
Protein name
(NP_004983)		 p.[Gln227Lysfs*21];[Pro173Arg]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift insertion or deletion, intronic variation, missense
Domain TRD, intronic, inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent not stated
Source of DNA blood
Carrier Y
Carrier result mother carrier of both c.378-109A>G and p.P173R, c.678delT de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
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.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] Female mother carrier of both c.378-109A>G and p.P173R, c.678delT de novo Rett syndrome-not certain 5238 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