Variant information
Systematic Name (NM_004992.3:) |
c.[1158_1167del10; 1173_1188del16] |
---|---|
Protein name (NP_004983) |
p.Pro387Hisfs*9 |
Alternate systematic Name (NM_001110792.1:) |
c.[1194_1203del10;1209_1224del16] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296112_153296121del10;153296091_153296106del16] |
Mutation type | 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.[1158_1167del10; 1173_1188del16] | p.Pro387Hisfs*9 | Female | Rett syndrome-classical | 3010 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |