Proband information



Proband id 430
Systematic Name c.598A>T
Protein name p.Lys200*
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
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-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 430 :::
2 c.598A>T p.Lys200* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1862 :Bunyan, D.::