Variant information


Systematic Name
(NM_004992.3:)
c.695delG
Protein name
(NP_004983)
p.Gly232fs
Alternate systematic Name
(NM_001110792.1:)
c.731delG
Alternate Protein name
(NP_001104262)
p.(Gly244Alafs*16)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296584delC
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.695delG p.Gly232fs Female Rett syndrome-Classical 186 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 View details
2 c.695delG p.Gly232fs Female Rett syndrome-atypical 1952 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 View details
3 c.695delG p.Gly232fs Female Rett syndrome-Classical 2092 :Cardiff, UK:: View details
4 c.695delG p.Gly232fs Female Rett syndrome-classical 3409 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 View details
5 c.695delG p.Gly232fs Female Rett syndrome-classical 3755 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