Proband information


Proband id 5246
Systematic Name
(NM_004992.3:)
c.[1024_1025insAG;1029delG;1155_1209del55]
Protein name
(NP_004983)
p.Proro342_Proro403delins44
Alternate systematic Name
(NM_001110792.1:)
c.[1060_1061insAG;1065delG;1191_1245del55]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296254_153296255insCT;153296250delC;153296070_153296124del55]
Mutation type combined in-frame insertion and 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 mutations, 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.[1024_1025insAG;1029delG;1155_1209del55] p.Proro342_Proro403delins44 Female mother does not carry mutations, father not tested Rett syndrome-not certain 5246 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