Proband information
Proband id | 1117 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1118_1300del183ins61];[1157_1197del41] |
Protein name (NP_004983) |
p.[Ser373fs];[Leu386fs] |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[1118_1300del183ins61];[1157_1197del41] | p.[Ser373fs];[Leu386fs] | Female | Rett syndrome-Not certain | 1117 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 |