Proband information

Proband id 6667
Systematic Name c.753_754dup
Protein name p.Gly252fs
Genomic name g.153296525_153296526dup
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Chromosomes tested
Chromosome abnormality N
Chromosome abnormality description
Detection direct
Extent all exons
Source of DNA Blood
Carrier status checked? N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
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