Variant information
Systematic Name (NM_004992.3:) |
c.100_103delGATA |
---|---|
Protein name (NP_004983) |
p.Asp34fs |
Alternate systematic Name (NM_001110792.1:) |
c.136_139delGATA |
Alternate Protein name (NP_001104262) |
p.(Asp46Argfs*90) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297932_153297935delTATC |
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.100_103delGATA | p.Asp34fs | Female | Rett syndrome-Classical | 468 | ::: | View details |
2 | c.100_103delGATA | p.Asp34fs | Unknown | Rett syndrome-classical | 1525 | Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 | View details |