Variant information


Systematic Name
(NM_004992.3:)		 c.[502C>T];[695G>C]
Protein name
(NP_004983)		 p.[Arg168*];[Gly232Ala]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Nonsense, missense
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Unknown Rett syndrome-Not certain 129 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 View details
2 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Unknown Rett syndrome-Not certain 132 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 View details
3 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Unknown Rett syndrome-Not certain 134 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 View details