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