Proband information

Proband id 2455
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Nonsense, silent
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Not known
Extent Exons 2-4
Source of DNA Blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.[502C>T(;)750C>A] p.[Arg168*(;)Arg250Arg] Female Researcher claims both variations de novo Rett syndrome-Classical 2455 :::