Variant information

Systematic Name
c.[397C>T; 602C>T]
Protein name
p.[Arg133Cys; Ala201Val]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain MBD, inter-domain region
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[397C>T; 602C>T] p.[Arg133Cys; Ala201Val] Male Rett syndrome-male variant 3794 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 View details