Proband information
Proband id | 1235 |
---|---|
Systematic Name (NM_004992.3:) |
c.[763C>T(;)1449G>C] |
Protein name (NP_004983) |
p.[Arg255*(;)Glu483Asp] |
Alternate systematic Name (NM_001110792.1:) |
c.[799C>T;1485G>C] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296516G>A;153295830C>G] |
Mutation type | Nonsense |
Domain | TRD, C-term |
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.[763C>T(;)1449G>C] | p.[Arg255*(;)Glu483Asp] | Female | Neither parent has variation | Rett syndrome-Classical | 1235 | 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 |