Variant information

Systematic Name c.[763C>T(;)1233C>T]
Protein name p.[Arg255*(;)Ser411Ser]
Mutation type Nonsense, silent
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 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Researcher claims both variations de novo
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.[763C>T(;)1233C>T] p.[Arg255*(;)Ser411Ser] Nonsense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 2453 :::