NDDVD - Neurodegenerative Diseases Variation Database
CDKL5 (cyclin-dependent kinase-like 5)
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Curator:
Y Yang
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View all transcripts of gene CDKL5
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View all variants affecting transcripts
View unique variants in gene CDKL5
View all variants in gene CDKL5
Full data view for gene CDKL5
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View all individuals with variants in gene CDKL5
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View all diseases associated with gene CDKL5
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View all screenings for gene CDKL5
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All screenings for gene CDKL5
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
65 entries on 1 page. Showing entries 1 - 65.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000004150
00004150
?
?
1
Y Yang
0000004151
00004151
?
?
1
Y Yang
0000004152
00004152
?
?
1
Y Yang
0000004153
00004153
?
?
1
Y Yang
0000004154
00004154
?
?
1
Y Yang
0000004155
00004155
?
?
1
Y Yang
0000004156
00004156
?
?
1
Y Yang
0000004157
00004157
?
?
1
Y Yang
0000004158
00004158
?
?
1
Y Yang
0000004159
00004159
?
?
1
Y Yang
0000004160
00004160
?
?
1
Y Yang
0000004161
00004161
?
?
1
Y Yang
0000004162
00004162
?
?
1
Y Yang
0000004163
00004163
?
?
1
Y Yang
0000004164
00004164
?
?
1
Y Yang
0000004165
00004165
?
?
1
Y Yang
0000004166
00004166
?
?
1
Y Yang
0000004167
00004167
?
?
1
Y Yang
0000004168
00004168
?
?
1
Y Yang
0000004169
00004169
?
?
1
Y Yang
0000004170
00004170
?
?
1
Y Yang
0000004171
00004171
?
?
1
Y Yang
0000004172
00004172
?
?
1
Y Yang
0000004173
00004173
?
?
1
Y Yang
0000004174
00004174
?
?
1
Y Yang
0000004175
00004175
?
?
1
Y Yang
0000004176
00004176
?
?
1
Y Yang
0000004177
00004177
?
?
1
Y Yang
0000004178
00004178
?
?
1
Y Yang
0000004179
00004179
?
?
1
Y Yang
0000004180
00004180
?
?
1
Y Yang
0000004181
00004181
?
?
1
Y Yang
0000004182
00004182
?
?
1
Y Yang
0000004183
00004183
?
?
1
Y Yang
0000004184
00004184
?
?
1
Y Yang
0000004185
00004185
?
?
1
Y Yang
0000004186
00004186
?
?
1
Y Yang
0000004187
00004187
?
?
1
Y Yang
0000004188
00004188
?
?
1
Y Yang
0000004189
00004189
?
?
1
Y Yang
0000004190
00004190
?
?
1
Y Yang
0000004191
00004191
?
?
1
Y Yang
0000004192
00004192
?
?
1
Y Yang
0000004193
00004193
?
?
1
Y Yang
0000004194
00004194
?
?
1
Y Yang
0000004195
00004195
?
?
1
Y Yang
0000004196
00004196
?
?
1
Y Yang
0000004197
00004197
?
?
1
Y Yang
0000004198
00004198
?
?
1
Y Yang
0000004199
00004199
?
?
1
Y Yang
0000004267
00004267
?
?
1
Y Yang
0000004268
00004268
?
?
1
Y Yang
0000004269
00004269
?
?
1
Y Yang
0000004270
00004270
?
?
1
Y Yang
0000004271
00004271
?
?
1
Y Yang
0000004272
00004272
?
?
1
Y Yang
0000004273
00004273
?
?
1
Y Yang
0000004274
00004274
?
?
1
Y Yang
0000004275
00004275
?
?
1
Y Yang
0000004276
00004276
?
?
1
Y Yang
0000004277
00004277
?
?
1
Y Yang
0000004278
00004278
?
?
1
Y Yang
0000004299
00004299
?
?
1
Y Yang
0000004300
00004300
?
?
1
Y Yang
0000005865
00005848
?
?
1
XY Liu
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