Variant information


Systematic Name c.752C>T
Protein name p.Pro251Leu
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 186 chromosomes tested and not found in 186 chromosomes
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Unaffected family member
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.752C>T p.Pro251Leu Missense TRD Polymorphism not causing disease Male Not Rett synd. 149 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