Variant information


Systematic Name c.168C>T
Protein name p.Pro56Pro
Mutation type Silent
Domain N-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Mother is not carrier
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 References
1 c.168C>T p.Pro56Pro Silent N-term Silent polymorphism Unknown Rett syndrome-Not certain 147 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.168C>T p.Pro56Pro Silent N-term Silent polymorphism Male Not Known 1794 :Friez, Michael::
3 c.168C>T p.Pro56Pro Silent N-term Silent polymorphism Male Not Known 2140 :Cardiff, UK::