Proband information
Proband id | 5248 |
---|---|
Systematic Name (NM_004992.3:) |
c.[488_995del508;1061_1062delGC;1229_1240del12] |
Protein name (NP_004983) |
p.Gly163Alafs*5 |
Alternate systematic Name (NM_001110792.1:) |
c.[524_1031del508;1097_1098delGC;1265_1276del12] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296284_153296791del508;153296217_153296218delGC;153296039_153296050del12] |
Mutation type | in-frame insertion or deletion, frameshift insertion or deletion |
Domain | inter-domain region, TRD, C-term |
Pathogenicity | Mutation associated with disease |
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 | 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.[488_995del508;1061_1062delGC;1229_1240del12] | p.Gly163Alafs*5 | Female | Rett syndrome-not certain | 5248 | 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 |