Variant information
Systematic Name (NM_004992.3:) |
c.27-?_377+?del (exon 3 deletion) |
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Protein name (NP_004983) |
p.Arg9_Asn126delinsSer |
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.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | Rett syndrome-not certain | 3350 | Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082 | View details |
2 | c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | Rett syndrome-not certain | 4777 | De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116 | View details |
3 | c.27-?_377+?del (exon 3 deletion) | p.Arg9_Asn126delinsSer | Female | Rett syndrome-not certain | 4778 | De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116 | View details |