Variant information


Systematic Name
(NM_004992.3:)		 c.1132_1202del71
Protein name
(NP_004983)		 p.Ala378fs
Alternate systematic Name
(NM_001110792.1:)		 c.1168_1238del71
Alternate Protein name
(NP_001104262)		 p.(Ala390Profs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296077_153296147del71
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.1132_1202del71 p.Ala378fs Unknown Rett syndrome-Not certain 1369 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details
2 c.1132_1202del71 p.Ala378fs Female Rett syndrome-atypical 3761 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