Proband information
Proband id | 2499 |
---|---|
Systematic Name (NM_004992.3:) |
c.(378_1461)_(378_1461)del |
Protein name (NP_004983) |
p.(Asn126+Ser486)fs |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | Frameshift insertion or deletion |
Domain | Not known |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | Direct for exon 1, MLPA for exons 1-4 |
Extent | Exon 1 |
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 | Not known |
Phenotype-class | Rett syndrome-Atypical |
Reference | Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2083 | :Cardiff, UK:: | |
2 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2084 | :Cardiff, UK:: | |
3 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Atypical | 2085 | :Cardiff, UK:: | |
4 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2086 | :Cardiff, UK:: | |
5 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Not certain | 2087 | :Cardiff, UK:: | |
6 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Neither parent has variation | Rett syndrome-Atypical | 2499 | Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165 |