Proband information


Proband id 1526
Systematic Name
(NM_004992.3:)		 c.451delG
Protein name
(NP_004983)		 p.Asp151fs
Alternate systematic Name
(NM_001110792.1:)		 c.487delG
Alternate Protein name
(NP_001104262)		 p.(Asp163Thrfs*9)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296828delC
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Not known
Phenotype-class Rett syndrome-atypical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.451delG p.Asp151fs Unknown Rett syndrome-atypical 1526 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