Proband information
Proband id | 1236 |
---|---|
Systematic Name (NM_004992.3:) |
c.[802C>T(;) 808C>T] |
Protein name (NP_004983) |
p.[Arg268Trp(;) Arg270*] |
Alternate systematic Name (NM_001110792.1:) |
c.[838C>T;844C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296477G>A;153296471G>A] |
Mutation type | Missense, nonsense |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[802C>T(;) 808C>T] | p.[Arg268Trp(;) Arg270*] | Female | Neither parent has variation | Rett syndrome-Classical | 1236 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 |