Variant information


Systematic Name c.100_103delGATA
Protein name p.Asp34fs
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 468 :::
2 c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease 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