Variant information
Systematic Name (NM_004992.3:) |
c.[27-?_377+?del(;)1085_1216del132] |
---|---|
Protein name (NP_004983) |
p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] |
Alternate systematic Name (NM_001110792.1:) |
c.[63_413del;1121_1252del132] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153297658_153298008del;153296063_153296194del132] |
Mutation type | large deletion, inframe insertion or deletion |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[27-?_377+?del(;)1085_1216del132] | p.[Arg9_Asn126delinsSer(;) Pro362_Pro405del] | Female | Rett syndrome-classical | 3854 | Multiple de novo mutations in the MECP2 gene:Bunyan, D.J., Robinson, D.O.:Genetics Testing: 18652533 | View details |