Variant information


Systematic Name c.812_818del7
Protein name p.Lys271fs
Mutation type Frameshift insertion or deletion
Domain TRD
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 0 chromosomes
Carrier status checked Yes
Carrier result Mother not thought to be 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 References
1 c.812_818del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 450 :::