Variant information
Systematic Name (NM_004992.3:) |
c.[1164_1207 del(;)1231_1233delAGC ] |
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Protein name (NP_004983) |
p.[Pro389*(;)Ser411del] |
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:) |
g.153296072_153296115del,g.153296046_153296048delGCT |
Mutation type | nonsense,frameshift insertion or 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.[1164_1207 del(;)1231_1233delAGC ] | p.[Pro389*(;)Ser411del] | Male | Not Rett synd. | 6998 | Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 | View details |