Variant information


Systematic Name
(NM_004992.3:)		 c.203C>G
Protein name
(NP_004983)		 p.Ser68*
Alternate systematic Name
(NM_001110792.1:)		 c.239C>G
Alternate Protein name
(NP_001104262)		 p.(Ser80*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297832G>C
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.203C>G p.Ser68* Female Rett syndrome-classical 3686 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