Proband information



Proband id 466
Systematic Name c.1403_1408del6
Protein name p.Arg468_Pro469del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier
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 Reference
1 c.1403_1408del6 p.Arg468_Pro469del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Classical 466 :::