Variant information


Systematic Name
(NM_004992.3:)
c.243dupC
Protein name
(NP_004983)
p.Lys82fs
Alternate systematic Name
(NM_001110792.1:)
c.279dupC
Alternate Protein name
(NP_001104262)
p.(Lys94Glnfs*9)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297792dupG
Mutation type frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.243dupC p.Lys82fs Female Rett syndrome-classical 3750 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