Variant information
Systematic Name (NM_004992.3:) |
c.(378_1461)_(378_1461)del |
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Protein name (NP_004983) |
p.(Asn126+Ser486)fs |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | Frameshift insertion or deletion |
Domain | Not known |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2083 | :Cardiff, UK:: | View details |
2 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2084 | :Cardiff, UK:: | View details |
3 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Atypical | 2085 | :Cardiff, UK:: | View details |
4 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Classical | 2086 | :Cardiff, UK:: | View details |
5 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | Rett syndrome-Not certain | 2087 | :Cardiff, UK:: | View details |
6 | c.(378_1461)_(378_1461)del | p.(Asn126+Ser486)fs | Female | 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 | View details |