RettBASE: RettSyndrome.org
Variation Database
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MECP2
database
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CDKL5
database
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List of all CDKL5 variants
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List of all CDKL5 probands
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FOXG1
database
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List of all FOXG1 variants
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List of all FOXG1 probands
Summary & chart of mutations
Useful information
Reference sequence info
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MECP2,CDKL5,FOXG1 gene information
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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
Reference
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