Variant information


Systematic Name c.[752C>T];[1038_1191del154]
Protein name p.[Pro251Leu];[Ser346fs]
Mutation type Missense, frameshift insertion or deletion
Domain TRD, C-term
Pathogenicity Mutation associated with 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 Yes
Carrier result Unaffected father 57 is carrier of P251L, unaffected 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.[752C>T];[1038_1191del154] p.[Pro251Leu];[Ser346fs] Missense, frameshift insertion or deletion TRD, C-term Mutation associated with disease Unknown Rett syndrome-Not certain 131 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