Variant information
Systematic Name (NM_004992.3:) |
c.1336-?_*?del |
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Protein name (NP_004983) |
p.? |
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 | N-term/MBD/interdomain/TRD/NLS/C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1336-?_*?del | p.? | Female | Rett syndrome-classical | 2790 | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 | View details |