Proband information
Proband id | 3853 |
---|---|
Systematic Name (NM_004992.3:) |
c.[502C>T; 1136_1142del7] |
Protein name (NP_004983) |
p.Arg168* |
Alternate systematic Name (NM_001110792.1:) |
c.[538C>T;1172_1178del7] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296777G>A;153296137_153296143del7] |
Mutation type | nonsense, frameshift insertion or deletion |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | DHPLC |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | Y |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[502C>T; 1136_1142del7] | p.Arg168* | Female | de novo | Rett syndrome-not certain | 3853 | Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 |