Variant information


Systematic Name c.605G>A
Protein name p.Ala202His
Mutation type Missense
Domain Inter-domain
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent
Number of chromosomes checked 100 chromosomes tested and not found in 0 chromosomes
Carrier status checked Yes
Carrier result normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology:Xiao Zhou, et al : :

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.605G>A p.Ala202His Missense Inter-domain Unknown Female Rett syndrome-atypical 5330 Identification of a novel methyl-CpG binding protein 2 mutation in a rare case using targeted next-generation sequencing technology:Xiao Zhou, et al : :