Global Variome shared LOVD
GALNT12 (UDP-N-acetyl-alpha-D-galactosamine:polypep...)
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Curator:
InSiGHT - John-Paul Plazzer
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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-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.
48 entries on 1 page. Showing entries 1 - 48.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000090728
00090583
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090729
00090584
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090730
00090585
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090731
00090586
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090732
00090587
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090733
00090588
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090734
00090589
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090735
00090590
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090736
00090591
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090737
00090592
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090738
00090593
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090739
00090594
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091029
00090884
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000184545
00183577
DNA
SEQ
-
-
1
Laura Valle
0000184546
00183578
DNA
SEQ
-
-
1
Michael Woods
0000184547
00183579
DNA
SEQ
-
-
1
Laura Valle
0000184548
00183580
DNA
SEQ
-
-
1
Michael Woods
0000184549
00183581
DNA
SEQ
-
-
1
Laura Valle
0000184550
00183582
DNA
SEQ
-
-
1
Laura Valle
0000184551
00183583
DNA
SEQ
-
-
1
Michael Woods
0000184552
00183584
DNA
SEQ
-
-
1
Michael Woods
0000184553
00183585
DNA
SEQ
-
-
1
Michael Woods
0000184554
00183586
DNA
SEQ
-
-
1
Michael Woods
0000184555
00183587
DNA
SEQ
-
-
1
Michael Woods
0000184556
00183588
DNA
SEQ
-
-
1
Michael Woods
0000184557
00183589
DNA
SEQ
-
-
1
Michael Woods
0000184558
00183590
DNA
SEQ
-
-
1
Michael Woods
0000184559
00183591
DNA
SEQ
-
-
1
Michael Woods
0000184560
00183592
DNA
SEQ
-
-
1
Michael Woods
0000184561
00183593
DNA
SEQ
-
-
1
Laura Valle
0000184562
00183594
DNA
SEQ
-
-
1
Michael Woods
0000184563
00183595
DNA
SEQ
-
-
1
Laura Valle
0000184564
00183596
DNA
SEQ
-
-
1
Michael Woods
0000184565
00183597
DNA
SEQ
-
-
1
Laura Valle
0000184566
00183598
DNA
SEQ
-
-
1
Laura Valle
0000184567
00183599
DNA
SEQ
-
-
1
Michael Woods
0000184568
00183600
DNA
SEQ
-
-
1
Michael Woods
0000184569
00183601
DNA
SEQ
-
-
1
Michael Woods
0000184570
00183602
DNA
SEQ
-
-
1
Michael Woods
0000184571
00183603
DNA
SEQ
-
-
2
Laura Valle
0000184572
00183604
DNA
SEQ
-
-
1
Daniel Evans
0000184573
00183605
DNA
SEQ
-
-
1
Daniel Evans
0000184574
00183606
DNA
SEQ
-
-
1
Daniel Evans
0000184575
00183607
DNA
SEQ
-
-
1
Daniel Evans
0000184576
00183608
DNA
SEQ
-
-
1
Daniel Evans
0000184577
00183609
DNA
SEQ
-
-
1
Daniel Evans
0000184578
00183610
DNA
SEQ
-
-
1
Daniel Evans
0000184579
00183611
DNA
SEQ
-
-
1
Daniel Evans
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