Variant information


Systematic Name
(NM_004992.3:)
c.543_544delTC
Protein name
(NP_004983)
p.Pro182fs
Alternate systematic Name
(NM_001110792.1:)
c.579_580delTC
Alternate Protein name
(NP_001104262)
p.(Pro194Argfs*53)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296735_153296736delGA
Mutation type frameshift insertion or deletion
Domain inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.543_544delTC p.Pro182fs Female Rett syndrome-classical 3745 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