Proband information


Proband id 3752
Systematic Name
(NM_004992.3:)		 c.1320dupT
Protein name
(NP_004983)		 p.Ala441fs
Alternate systematic Name
(NM_001110792.1:)		 c.1356dupT
Alternate Protein name
(NP_001104262)		 p.(Ala453Cysfs*46)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295959dupA
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1320dupT p.Ala441fs Female de novo Rett syndrome-atypical 3752 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703