Variant information


Systematic Name
(NM_004992.3:)		 c.1450_1453delAGAG
Protein name
(NP_004983)		 p.Arg484fs
Alternate systematic Name
(NM_001110792.1:)		 c.1486_1489delAGAG
Alternate Protein name
(NP_001104262)		 p.(Arg496Leufs*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295826_153295829delCTCT
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1450_1453delAGAG p.Arg484fs Female Rett syndrome-classical 3746 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 View details