Variant information


Systematic Name c.[397C>T(;)438C>T]
Protein name p.[Arg133Cys(;)Gly146Gly]
Mutation type Missense, silent
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 0 chromosomes
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[397C>T(;)438C>T] p.[Arg133Cys(;)Gly146Gly] Missense, silent MBD Mutation associated with disease Female Rett syndrome-Classical 440 :::