Variant information
Systematic Name (NM_004992.3:) |
c.-168-?_*?del |
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Protein name (NP_004983) |
p.Met1? |
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 |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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1 | c.-168-?_*?del | p.Met1? | Female | Rett syndrome-Classical | 1980 | Detection of Heterozygous Deletions and Duplications in the MECP2 Gene in Rett Syndrome by Robust Dosage PCR (RD-PCR):Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel, Steve S. Sommer:Human Mutation: 15841480 | View details |
2 | c.-168-?_*?del | p.Met1? | Female | Rett syndrome-classical | 2762 | Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 | View details |