Variant information
Systematic Name (NM_004992.3:) |
c.-138_-134dup |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.23_27dup |
Alternate Protein name (NP_001104262) |
p.(Ser10Argfs*36) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363096_153363100dup |
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 |
---|---|---|---|---|---|---|---|
1 | c.-138_-134dup | p.(=) | Male | Rett syndrome-classical | 6993 | A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation:Narumi Tokaji, Hiromichi Ito,Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi,Aya Goji,Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami,Issei Imoto:American Journalof Medical genetics: 29341476 | View details |