Global Variome shared LOVD
KCNJ11 (potassium inwardly-rectifying channel, subf...)
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All screenings for gene KCNJ11
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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
arrayMET = array for methylation analysis
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 = single 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
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.
103 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000214115
00213040
DNA
SEQ
-
-
1
Su Fen Ang
0000219444
00218375
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000245622
00244510
DNA
SEQ
-
-
1
Thomas Laver
0000245623
00244511
DNA
SEQ
-
-
1
Thomas Laver
0000245624
00244512
DNA
SEQ
-
-
1
Thomas Laver
0000245625
00244513
DNA
SEQ
-
-
1
Thomas Laver
0000245626
00244514
DNA
SEQ
-
-
1
Thomas Laver
0000245627
00244515
DNA
SEQ
-
-
1
Thomas Laver
0000245628
00244516
DNA
SEQ
-
-
1
Thomas Laver
0000245629
00244517
DNA
SEQ
-
-
1
Thomas Laver
0000245630
00244518
DNA
SEQ
-
-
1
Thomas Laver
0000245631
00244519
DNA
SEQ
-
-
1
Thomas Laver
0000245632
00244520
DNA
SEQ
-
-
1
Thomas Laver
0000245633
00244521
DNA
SEQ
-
-
1
Thomas Laver
0000245634
00244522
DNA
SEQ
-
-
1
Thomas Laver
0000245635
00244523
DNA
SEQ
-
-
1
Thomas Laver
0000245636
00244524
DNA
SEQ
-
-
1
Thomas Laver
0000245637
00244525
DNA
SEQ
-
-
1
Thomas Laver
0000245638
00244526
DNA
SEQ
-
-
1
Thomas Laver
0000245639
00244527
DNA
SEQ
-
-
1
Thomas Laver
0000245640
00244528
DNA
SEQ
-
-
1
Thomas Laver
0000245641
00244529
DNA
SEQ
-
-
1
Thomas Laver
0000245642
00244530
DNA
SEQ
-
-
1
Thomas Laver
0000245643
00244531
DNA
SEQ
-
-
1
Thomas Laver
0000245644
00244532
DNA
SEQ
-
-
1
Thomas Laver
0000245645
00244533
DNA
SEQ
-
-
1
Thomas Laver
0000245646
00244534
DNA
SEQ
-
-
1
Thomas Laver
0000245647
00244535
DNA
SEQ
-
-
1
Thomas Laver
0000245648
00244536
DNA
SEQ
-
-
1
Thomas Laver
0000245649
00244537
DNA
SEQ
-
-
1
Thomas Laver
0000245650
00244538
DNA
SEQ
-
-
1
Thomas Laver
0000245651
00244539
DNA
SEQ
-
-
1
Thomas Laver
0000245652
00244540
DNA
SEQ
-
-
1
Thomas Laver
0000245653
00244541
DNA
SEQ
-
-
1
Thomas Laver
0000245654
00244542
DNA
SEQ
-
-
1
Thomas Laver
0000245655
00244543
DNA
SEQ
-
-
1
Thomas Laver
0000245656
00244544
DNA
SEQ
-
-
1
Thomas Laver
0000245657
00244545
DNA
SEQ
-
-
1
Thomas Laver
0000245658
00244546
DNA
SEQ
-
-
1
Thomas Laver
0000245659
00244547
DNA
SEQ
-
-
1
Thomas Laver
0000245660
00244548
DNA
SEQ
-
-
1
Thomas Laver
0000245661
00244549
DNA
SEQ
-
-
1
Thomas Laver
0000245662
00244550
DNA
SEQ
-
-
1
Thomas Laver
0000245663
00244551
DNA
SEQ
-
-
1
Thomas Laver
0000245664
00244552
DNA
SEQ
-
-
1
Thomas Laver
0000245665
00244553
DNA
SEQ
-
-
1
Thomas Laver
0000245666
00244554
DNA
SEQ
-
-
1
Thomas Laver
0000245667
00244555
DNA
SEQ
-
-
1
Thomas Laver
0000245668
00244556
DNA
SEQ
-
-
1
Thomas Laver
0000245669
00244557
DNA
SEQ
-
-
1
Thomas Laver
0000245670
00244558
DNA
SEQ
-
-
1
Thomas Laver
0000245671
00244559
DNA
SEQ
-
-
1
Thomas Laver
0000245672
00244560
DNA
SEQ
-
-
1
Thomas Laver
0000245673
00244561
DNA
SEQ
-
-
1
Thomas Laver
0000245674
00244562
DNA
SEQ
-
-
1
Thomas Laver
0000245675
00244563
DNA
SEQ
-
-
1
Thomas Laver
0000245676
00244564
DNA
SEQ
-
-
1
Thomas Laver
0000245677
00244565
DNA
SEQ
-
-
1
Thomas Laver
0000245678
00244566
DNA
SEQ
-
-
1
Thomas Laver
0000245679
00244567
DNA
SEQ
-
-
1
Thomas Laver
0000245680
00244568
DNA
SEQ
-
-
1
Thomas Laver
0000245681
00244569
DNA
SEQ
-
-
1
Thomas Laver
0000245682
00244570
DNA
SEQ
-
-
1
Thomas Laver
0000245683
00244571
DNA
SEQ
-
-
1
Thomas Laver
0000245684
00244572
DNA
SEQ
-
-
1
Thomas Laver
0000245685
00244573
DNA
SEQ
-
-
1
Thomas Laver
0000245686
00244574
DNA
SEQ
-
-
1
Thomas Laver
0000245687
00244575
DNA
SEQ
-
-
1
Thomas Laver
0000245688
00244576
DNA
SEQ
-
-
1
Thomas Laver
0000245689
00244577
DNA
SEQ
-
-
1
Thomas Laver
0000245690
00244578
DNA
SEQ
-
-
1
Thomas Laver
0000245691
00244579
DNA
SEQ
-
-
1
Thomas Laver
0000245692
00244580
DNA
SEQ
-
-
1
Thomas Laver
0000245693
00244581
DNA
SEQ
-
-
1
Thomas Laver
0000245694
00244582
DNA
SEQ
-
-
1
Thomas Laver
0000245695
00244583
DNA
SEQ
-
-
1
Thomas Laver
0000245696
00244584
DNA
SEQ
-
-
1
Thomas Laver
0000245697
00244585
DNA
SEQ
-
-
1
Thomas Laver
0000245698
00244586
DNA
SEQ
-
-
1
Thomas Laver
0000245699
00244587
DNA
SEQ
-
-
1
Thomas Laver
0000245700
00244588
DNA
SEQ
-
-
1
Thomas Laver
0000245701
00244589
DNA
SEQ
-
-
1
Thomas Laver
0000245702
00244590
DNA
SEQ
-
-
1
Thomas Laver
0000245703
00244591
DNA
SEQ
-
-
1
Thomas Laver
0000245704
00244592
DNA
SEQ
-
-
1
Thomas Laver
0000245705
00244593
DNA
SEQ
-
-
1
Thomas Laver
0000270420
00269288
DNA
SEQ-NG-I
Peripheral blood
gene panel (https://www.exeterlaboratory.com/genetics/hyperinsulinism/)
1
Kevin Colclough
0000270421
00269289
DNA
SEQ-NG-I
Peripheral blood
gene panel (https://www.exeterlaboratory.com/genetics/hyperinsulinism/)
1
Kevin Colclough
0000307064
00305933
DNA
SEQ-NG
-
-
1
Sha Hong
0000307260
00306129
DNA
SEQ-NG
-
-
2
Sha Hong
0000307350
00306217
DNA
SEQ-NG
-
-
1
Sha Hong
0000321622
00320435
DNA
SEQ
Blood and pancreas
-
2
Cécile Saint-Martin
0000321623
00320436
DNA
SEQ
blood
-
2
Cécile Saint-Martin
0000321624
00320437
DNA
SEQ
blood
-
1
Cécile Saint-Martin
0000321629
00320441
DNA
SEQ
blood
-
2
Cécile Saint-Martin
0000321632
00320444
DNA
SEQ-NG-R
blood
-
2
Cécile Saint-Martin
0000321636
00320447
DNA
SEQ
blood
-
1
Cécile Saint-Martin
0000321638
00320449
DNA
SEQ
blood
-
1
Cécile Saint-Martin
0000321639
00320450
DNA
SEQ
blood
-
1
Cécile Saint-Martin
0000321641
00320452
DNA
SEQ
blood
-
2
Cécile Saint-Martin
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