RettBASE: RettSyndrome.org
Variation Database
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MECP2
database
Search Mutations
List of all mutations
Graph of mutations
Summary of mutations
Stats of mutations
CDKL5
database
Search variants
List of all CDKL5 variants
Search probands
List of all CDKL5 probands
Summary & chart of mutations
FOXG1
database
Search variants
List of all FOXG1 variants
Search probands
List of all FOXG1 probands
Summary & chart of mutations
Useful information
Reference sequence info
General resources
MECP2,CDKL5,FOXG1 gene information
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Please select the fields you wish to display
meeting a single or a combination of the following criteria
Short Citation
Nucleotide change
Amino acid change
Type of sequence change
Mutation/polymorphism
Domain change location
Additional sequence variation
Phenotype
Evidence of pathogenicity
Sporadic or familial?
Sex
X-inactivation ratio
X-inactivation in relatives
Carrier status of family
Detection method
Extent of coding region screened
Source of DNA
Entry Id
Patient Id (from cited publication)
Citation
Cited author(s)
Cited title
Cited Pubmed
Cited Year
Cited journal
and
or
Nucleotide change
Amino acid change
and
or
Type of sequence change
please select
Silent
Missense
Nonsense
Frameshift insertion or deletion
In-frame insertion or deletion
Frameshift combined insertion and deletion
In-frame combined insertion and deletion
3'UTR variation
5'UTR variation
Intronic variation
and
or
Mutation/polymorphism
please select
Mutation associated with disease
Polymorphism not causing disease
Silent polymorphism
Unknown
and
or
Domain change location
please select
5'UTR
N-terminal region
MBD
Inter-domain region
TRD
NLS
C-terminal region
3'UTR
Intronic
and
or
Sporadic or familial?
please select
Sporadic
Familial
Not known
and
or
Sex
please select
male
female
unknown
and
or
X-inactivation ratio
please select
>95:<5
94:6 - 80:20
79:21 - 70:30
69:31 - 60:40
59:41 - 50:50
Not tested
All tested
Not known
somatic mosaicism
heavily skewed
uninformative (homozygous)
and
or
Entry date
please select
in last 24 hrs
week
month
year
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