Global Variome shared LOVD
GK (glycerol kinase)
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Curators:
Johan den Dunnen
and
Global Variome, with Curator vacancy
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View all transcripts of gene GK
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View all variants affecting transcripts
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View all diseases associated with gene GK
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All screenings for gene GK
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 (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
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.
89 entries on 1 page. Showing entries 1 - 89.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000029706
00029663
DNA
PCR
-
-
3
Johan den Dunnen
0000034471
00034404
DNA
PCR
-
-
1
Johan den Dunnen
0000034472
00034405
DNA
PCR
-
-
1
Johan den Dunnen
0000034473
00034406
DNA
PCR
-
-
1
Johan den Dunnen
0000034474
00034407
DNA
PCR
-
-
1
Johan den Dunnen
0000034475
00034408
DNA
PCR
-
-
1
Johan den Dunnen
0000034476
00034409
DNA
PCR
-
-
1
Johan den Dunnen
0000034477
00034410
DNA
PCR
-
-
1
Johan den Dunnen
0000034478
00034411
DNA
PCR
-
-
1
Johan den Dunnen
0000034479
00034412
DNA
PCR
-
-
1
Johan den Dunnen
0000034480
00034413
DNA
PCR
-
-
1
Johan den Dunnen
0000034481
00034414
DNA
PCR
-
-
1
Johan den Dunnen
0000034482
00034415
DNA
PCR
-
-
1
Johan den Dunnen
0000034484
00034417
DNA
MLPA
-
-
1
Johan den Dunnen
0000034485
00034418
DNA
MLPA
-
-
1
Johan den Dunnen
0000034490
00034423
DNA
arrayCGH;arraySNP
-
-
1
Johan den Dunnen
0000048981
00049064
DNA
SEQ
-
-
1
Johan den Dunnen
0000050203
00050258
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000080947
00080835
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000118328
00117865
DNA;RNA
PCR;RT-PCR;SEQ
-
-
1
Fowzan Alkuraya
0000173178
00172295
DNA
SEQ
-
-
1
Lucy Raymond
0000173179
00172296
DNA
SEQ
-
-
1
Lucy Raymond
0000173180
00172297
DNA
SEQ
-
-
1
Lucy Raymond
0000173181
00172298
DNA
SEQ
-
-
1
Lucy Raymond
0000208929
00207887
DNA
SEQ
-
WGS
1
Johan den Dunnen
0000211449
00210373
DNA
Southern;SEQ
-
-
1
Johan den Dunnen
0000211450
00210374
DNA
Southern;SEQ
-
-
1
Johan den Dunnen
0000211451
00210375
DNA
Southern;SEQ
-
-
1
Johan den Dunnen
0000211452
00210376
DNA
Southern;SEQ
-
-
1
Johan den Dunnen
0000211453
00210377
DNA
PCR
-
-
1
Johan den Dunnen
0000211454
00210378
DNA
PCR
-
-
1
Johan den Dunnen
0000211455
00210379
DNA
PCR
-
-
1
Johan den Dunnen
0000211456
00210380
DNA
PCR
-
-
1
Johan den Dunnen
0000211457
00210381
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000211458
00210382
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000211459
00210383
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000211460
00210384
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000211461
00210385
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211462
00210386
DNA
SEQ
-
-
3
Johan den Dunnen
0000211463
00210387
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211464
00210388
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211465
00210389
DNA
SSCA;SEQ
-
-
1
Johan den Dunnen
0000211466
00210390
DNA
SSCA;SEQ
-
-
1
Johan den Dunnen
0000211467
00210391
DNA
SSCA;SEQ
-
-
1
Johan den Dunnen
0000211468
00210392
DNA
SSCA;SEQ
-
-
2
Johan den Dunnen
0000211469
00210393
DNA
SSCA;SEQ
-
-
1
Johan den Dunnen
0000211470
00210394
DNA
SEQ
-
-
1
Johan den Dunnen
0000211471
00210395
DNA
SEQ
-
-
1
Johan den Dunnen
0000211472
00210396
DNA
SEQ
-
-
1
Johan den Dunnen
0000211473
00210397
DNA
SEQ
-
-
1
Johan den Dunnen
0000211474
00210398
DNA
SEQ
-
-
1
Johan den Dunnen
0000211475
00210399
DNA
SEQ
-
-
1
Johan den Dunnen
0000211476
00210400
DNA
SEQ
-
-
1
Johan den Dunnen
0000211477
00210401
DNA
SEQ
-
-
1
Johan den Dunnen
0000211478
00210402
DNA
SEQ
-
-
1
Johan den Dunnen
0000211479
00210403
DNA
SEQ
-
-
1
Johan den Dunnen
0000211480
00210404
DNA
SEQ
-
-
1
Johan den Dunnen
0000211481
00210405
DNA
SEQ
-
-
1
Johan den Dunnen
0000211482
00210406
DNA
SEQ
-
-
1
Johan den Dunnen
0000211483
00210407
DNA
SEQ
-
-
1
Johan den Dunnen
0000211484
00210408
DNA
SEQ
-
-
1
Johan den Dunnen
0000211485
00210409
DNA
SEQ
-
-
1
Johan den Dunnen
0000211486
00210410
DNA
SEQ
-
-
1
Johan den Dunnen
0000211487
00210411
DNA
SEQ
-
-
1
Johan den Dunnen
0000211488
00210412
DNA
SEQ
-
-
1
Johan den Dunnen
0000211489
00210413
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211490
00210414
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211491
00210415
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000211492
00210416
DNA
SEQ
-
-
1
Johan den Dunnen
0000211493
00210417
DNA
SEQ
-
-
1
Madhuri Hegde
0000240882
00239779
DNA
PCR
-
-
1
Johan den Dunnen
0000290208
00289039
DNA
arrayCGH
-
-
1
Johan den Dunnen
0000290503
00289333
DNA
SEQ-NG
-
-
2
Philippe Campeau
0000290504
00289334
DNA
SEQ-NG
-
-
1
Philippe Campeau
0000290505
00289335
DNA
SEQ-NG
-
-
2
Philippe Campeau
0000290506
00289336
DNA
SEQ-NG
-
-
2
Philippe Campeau
0000290507
00289337
DNA
SEQ-NG
-
-
1
Philippe Campeau
0000290508
00289338
DNA
SEQ-NG
-
-
1
Philippe Campeau
0000290509
00289339
DNA
SEQ-NG
-
-
2
Philippe Campeau
0000290510
00289340
DNA
SEQ-NG
-
-
1
Philippe Campeau
0000290511
00289341
DNA
SEQ-NG
-
-
1
Philippe Campeau
0000290609
00289441
DNA
MLPA;SEQ-NG
-
-
2
Martin Bezdíčka
0000297440
00296268
DNA
SEQ-NG
-
-
2
Johan den Dunnen
0000297441
00296269
DNA
SEQ-NG
-
-
1
Johan den Dunnen
0000297442
00296270
DNA
SEQ-NG
-
-
1
Johan den Dunnen
0000304194
00303069
DNA
SEQ-NG
-
WES
2
Johan den Dunnen
0000315561
00314388
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000333076
00331857
DNA
SEQ
-
-
1
LOVD
0000429658
00428247
DNA
PCR
-
-
1
Johan den Dunnen
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