Proband information
Proband id | 2545 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1148_1177del30];[1148_1177del30] |
Protein name (NP_004983) |
p.[Leu383_Glu392del];[Leu383_Glu392del] |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | inframe insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons2-4 |
Source of DNA | blood |
Carrier | NC |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[1148_1177del30];[1148_1177del30] | p.[Leu383_Glu392del];[Leu383_Glu392del] | Female | Rett syndrome-not certain | 2545 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 |