Global Variome shared LOVD
KCNQ2 (potassium voltage-gated channel, KQT-like su...)
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Curator:
Global Variome, with Curator vacancy
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View KCNQ2 gene homepage
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View all transcripts of gene KCNQ2
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View all diseases associated with gene KCNQ2
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All screenings for gene KCNQ2
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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 (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
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)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
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'
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86 entries on 1 page. Showing entries 1 - 86.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000044
00000044
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000016250
00016321
DNA
SEQ;SEQ-NG-I
-
-
2
Lab Zuffardi
0000016251
00016322
DNA
SEQ;SEQ-NG-I
-
-
3
Lab Zuffardi
0000036055
00035985
DNA
SEQ
-
-
1
Andreas Laner
0000036056
00035986
DNA
SEQ
-
-
1
Andreas Laner
0000036057
00035987
DNA
SEQ
-
-
1
Andreas Laner
0000036058
00035988
DNA
SEQ
-
-
1
Andreas Laner
0000036059
00035989
DNA
SEQ
-
-
1
Andreas Laner
0000036060
00035990
DNA
SEQ
-
-
1
Andreas Laner
0000036061
00035991
DNA
SEQ
-
-
1
Andreas Laner
0000036062
00035992
DNA
SEQ
-
-
1
Andreas Laner
0000036063
00035993
DNA
SEQ
-
-
1
Andreas Laner
0000036064
00035994
DNA
SEQ
-
-
1
Andreas Laner
0000036065
00035995
DNA
SEQ
-
-
1
Andreas Laner
0000036066
00035996
DNA
SEQ
-
-
1
Andreas Laner
0000036067
00035997
DNA
SEQ
-
-
1
Andreas Laner
0000036068
00035998
DNA
SEQ
-
-
1
Andreas Laner
0000036069
00035999
DNA
SEQ
-
-
1
Andreas Laner
0000036070
00036000
DNA
SEQ
-
-
1
Andreas Laner
0000036071
00036001
DNA
SEQ
-
-
1
Andreas Laner
0000036072
00036002
DNA
SEQ
-
-
1
Andreas Laner
0000036073
00036003
DNA
SEQ
-
-
1
Andreas Laner
0000036074
00036004
DNA
SEQ
-
-
1
Andreas Laner
0000036075
00036005
DNA
SEQ
-
-
1
Andreas Laner
0000036076
00036006
DNA
SEQ
-
-
1
Andreas Laner
0000036077
00036007
DNA
SEQ
-
-
1
Andreas Laner
0000036078
00036008
DNA
SEQ
-
-
1
Andreas Laner
0000036079
00036009
DNA
SEQ
-
-
1
Andreas Laner
0000036080
00036010
DNA
SEQ
-
-
1
Andreas Laner
0000036081
00036011
DNA
SEQ
-
-
1
Andreas Laner
0000036082
00036012
DNA
SEQ
-
-
1
Andreas Laner
0000036083
00036013
DNA
SEQ
-
-
1
Andreas Laner
0000050322
00050377
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050342
00050397
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050496
00050551
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050506
00050561
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050596
00050651
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000054736
00054788
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054744
00054795
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054770
00054821
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054771
00054822
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054772
00054823
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054773
00054824
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054774
00054825
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054775
00054826
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054776
00054827
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054777
00054828
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054778
00054829
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054779
00054830
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054780
00054831
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000054781
00054832
DNA
SEQ-NG-I
-
-
1
NeuroMeGen
0000080949
00080837
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000081160
00081048
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000092412
00092271
DNA
SEQ;SEQ-NG
-
-
Not yet submitted
Johan den Dunnen
0000111870
00111406
DNA
SEQ-NG
-
-
1
Bernt Popp
0000152822
00151965
DNA
SEQ-NG-I
-
-
1
Danique Vlaskamp
0000181093
00180190
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000304131
00303006
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000304132
00303007
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000304133
00303008
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000304134
00303009
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000304268
00303143
DNA
MIP;SEQ;SEQ-NG
-
65-gene panel
1
Johan den Dunnen
0000304269
00303144
DNA
MIP;SEQ;SEQ-NG
-
65-gene panel
1
Johan den Dunnen
0000304274
00303149
DNA
MIP;SEQ;SEQ-NG
-
65-gene panel
1
Johan den Dunnen
0000304275
00303150
DNA
MIP;SEQ;SEQ-NG
-
65-gene panel
1
Johan den Dunnen
0000307357
00306224
DNA
SEQ-NG
-
-
1
Sha Hong
0000309913
00308768
DNA
SEQ;SEQ-NG
-
105 WGS/200 WES
1
Global Variome, with Curator vacancy
0000316037
00314863
DNA
SEQ;SEQ-NG
-
trio WES
1
Johan den Dunnen
0000319163
00317981
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000326602
00325391
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000326603
00325392
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000332053
00330834
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000363432
00362203
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000375546
00374352
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375547
00374353
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375548
00374354
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375805
00374611
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375967
00374773
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375968
00374774
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000378320
00377115
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000404964
00403727
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000405032
00403795
DNA;RNA
arraySNP;SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000416568
00415286
DNA
SEQ-NG
-
exome sequencing done at a commercial CAPaccredited laboratory
1
LOVD
0000417722
00416443
DNA
SEQ-NG-I
Blood
WES
1
Andreas Laner
0000426293
00424973
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000428485
00427164
DNA
SEQ-NG-I
-
-
1
Andreas Laner
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