Variant information
Systematic Name (NM_004992.3:) |
c.[752C>T];[1038_1191del154] |
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Protein name (NP_004983) |
p.[Pro251Leu];[Ser346fs] |
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 | Missense, frameshift insertion or deletion |
Domain | TRD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[752C>T];[1038_1191del154] | p.[Pro251Leu];[Ser346fs] | Unknown | Rett syndrome-Not certain | 131 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 | View details |