Variant information
Systematic Name (NM_004992.3:) |
c.[1053_1054ins10; 1145_1199del55] |
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Protein name (NP_004983) |
p.Lys352fs |
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 | in-frame combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1053_1054ins10; 1145_1199del55] | p.Lys352fs | Unknown | Rett syndrome-Not certain | 855 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | View details |