Proband information


Proband id 5245
Systematic Name
(NM_004992.3:)		 c.[1089_1129del41;1156_1197del42]
Protein name
(NP_004983)		 p.Lys364Glyfs*13
Alternate systematic Name
(NM_001110792.1:)		 c.[1125_1165del41;1192_1233del42]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296150_153296190del41;153296082_153296123del42]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent not stated
Source of DNA blood
Carrier Y
Carrier result mother does not carry either mutation, father not tested
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.[1089_1129del41;1156_1197del42] p.Lys364Glyfs*13 Female mother does not carry either mutation, father not tested Rett syndrome-not certain 5245 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