Variant information

Systematic Name c.[710G>T(;)763C>T]
Protein name p.[Gly237Val(;)Arg255*]
Mutation type missense, nonsense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 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.[710G>T(;)763C>T] p.[Gly237Val(;)Arg255*] missense, nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2460 :::