Variant information

Systematic Name c.1450_*12del24
Protein name p.Val485_Ser486delins21
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 80 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier, Father is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1450_*12del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 406 :::