Proband information


Proband id 468
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
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.100_103delGATA p.Asp34fs Female Mother is not carrier Rett syndrome-Classical 468 :::
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