Proband information



Proband id 129
Systematic Name c.[502C>T];[695G>C]
Protein name p.[Arg168*];[Gly232Ala]
Mutation type Nonsense, missense
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 186 chromosomes tested and not found in 176 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease 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
2 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease 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
3 c.[502C>T];[695G>C] p.[Arg168*];[Gly232Ala] Nonsense, missense Inter-domain region, TRD Mutation associated with disease 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