Variant information
Systematic Name (NM_004992.3:) |
c.[965_970del6; 1029dupG; 1138_1208del71] |
---|---|
Protein name (NP_004983) |
p.[Pro322_Leu323del; Arg344fs] |
Alternate systematic Name (NM_001110792.1:) |
c.[1001_1006del6;1065dupG;1174_1244del71] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296309_153296314del6;153296250dupC;153296071_153296141del71] |
Mutation type | In-frame insertion or deletion, 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.[965_970del6; 1029dupG; 1138_1208del71] | p.[Pro322_Leu323del; Arg344fs] | Female | Rett syndrome-Not certain | 1116 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |