Global Variome shared LOVD
IGHMBP2 (immunoglobulin mu binding protein 2)
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Curator:
Jorge Oliveira
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All screenings for gene IGHMBP2
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.
163 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000009
00000009
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000011
00000011
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000012
00000012
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000014
00000014
DNA
SEQ-NG
-
-
22
Global Variome, with Curator vacancy
0000000016
00000016
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000020
00000020
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000025
00000025
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000030
00000030
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000031
00000031
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000034
00000034
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000035
00000035
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000041
00000041
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000042
00000042
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000043
00000043
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000044
00000044
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000045
00000045
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000046
00000046
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000047
00000047
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000048
00000048
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000049
00000049
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000050
00000050
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000051
00000051
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000056
00000056
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000057
00000057
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000058
00000058
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000062
00000062
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000064
00000064
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000068
00000068
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000070
00000070
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000072
00000072
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000073
00000073
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000075
00000075
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000076
00000076
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000078
00000078
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000085
00000085
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000086
00000086
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000087
00000087
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000088
00000088
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000089
00000089
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000090
00000090
DNA
SEQ-NG
-
-
8
Global Variome, with Curator vacancy
0000000091
00000091
DNA
SEQ-NG
-
-
5
Global Variome, with Curator vacancy
0000000092
00000092
DNA
SEQ-NG
-
-
8
Global Variome, with Curator vacancy
0000036031
00035961
DNA
SEQ
-
-
1
Andreas Laner
0000036032
00035962
DNA
SEQ
-
-
1
Andreas Laner
0000036033
00035963
DNA
SEQ
-
-
1
Andreas Laner
0000036034
00035964
DNA
SEQ
-
-
1
Andreas Laner
0000036035
00035965
DNA
SEQ
-
-
1
Andreas Laner
0000036036
00035966
DNA
SEQ
-
-
1
Andreas Laner
0000036037
00035967
DNA
SEQ
-
-
1
Andreas Laner
0000036038
00035968
DNA
SEQ
-
-
1
Andreas Laner
0000036039
00035969
DNA
SEQ
-
-
1
Andreas Laner
0000036040
00035970
DNA
SEQ
-
-
1
Andreas Laner
0000036041
00035971
DNA
SEQ
-
-
1
Andreas Laner
0000036042
00035972
DNA
SEQ
-
-
1
Andreas Laner
0000036043
00035973
DNA
SEQ
-
-
1
Andreas Laner
0000036044
00035974
DNA
SEQ
-
-
1
Andreas Laner
0000036045
00035975
DNA
SEQ
-
-
1
Andreas Laner
0000036046
00035976
DNA
SEQ
-
-
1
Andreas Laner
0000036047
00035977
DNA
SEQ
-
-
1
Andreas Laner
0000036048
00035978
DNA
SEQ
-
-
1
Andreas Laner
0000080957
00080845
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000080986
00080874
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000081120
00081008
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000211494
00210418
DNA
SEQ
-
-
3
Jorge Oliveira
0000211495
00210419
DNA
SEQ
-
-
4
Jorge Oliveira
0000211496
00210420
DNA
SEQ
-
-
3
Jorge Oliveira
0000211497
00210421
DNA
SEQ
-
-
3
Jorge Oliveira
0000211498
00210422
DNA
SEQ
-
-
5
Jorge Oliveira
0000211499
00210423
DNA
SEQ
-
-
2
Jorge Oliveira
0000211500
00210424
DNA
SEQ
-
-
2
Jorge Oliveira
0000211501
00210425
DNA
SEQ
-
-
2
Jorge Oliveira
0000211502
00210426
DNA
SEQ
-
-
2
Jorge Oliveira
0000211503
00210427
DNA
SEQ
-
-
2
Jorge Oliveira
0000211504
00210428
DNA
SEQ
-
-
2
Jorge Oliveira
0000211505
00210429
DNA
SEQ
-
-
2
Jorge Oliveira
0000211506
00210430
DNA
SEQ
-
-
2
Jorge Oliveira
0000211507
00210431
DNA
SEQ
-
-
2
Jorge Oliveira
0000211508
00210432
DNA
SEQ
-
-
2
Jorge Oliveira
0000211509
00210433
DNA
SEQ
-
-
2
Jorge Oliveira
0000211510
00210434
DNA
SEQ
-
-
2
Jorge Oliveira
0000211511
00210435
DNA
SEQ
-
-
2
Jorge Oliveira
0000211512
00210436
DNA
SEQ
-
-
2
Jorge Oliveira
0000211513
00210437
DNA
SEQ
-
-
2
Jorge Oliveira
0000211514
00210438
DNA
SEQ
-
-
2
Jorge Oliveira
0000211515
00210439
DNA
SEQ
-
-
2
Jorge Oliveira
0000211516
00210440
DNA
SEQ
-
-
1
Jorge Oliveira
0000211517
00210441
DNA
SEQ
-
-
2
Jorge Oliveira
0000211518
00210442
DNA
SEQ
-
-
2
Jorge Oliveira
0000211519
00210443
DNA
SEQ
-
-
2
Jorge Oliveira
0000211520
00210444
DNA
SEQ
-
-
2
Jorge Oliveira
0000211521
00210445
DNA
SEQ
-
-
2
Jorge Oliveira
0000211522
00210446
DNA
SEQ
-
-
2
Jorge Oliveira
0000211523
00210447
DNA
SEQ
-
-
2
Jorge Oliveira
0000211524
00210448
DNA
SEQ
-
-
2
Jorge Oliveira
0000211525
00210449
DNA
SEQ
-
-
2
Jorge Oliveira
0000211526
00210450
DNA
SEQ
-
-
2
Jorge Oliveira
0000211527
00210451
DNA
SEQ
-
-
2
Jorge Oliveira
0000211528
00210452
DNA
SEQ
-
-
2
Jorge Oliveira
0000211529
00210453
DNA
SEQ
-
-
2
Jorge Oliveira
0000211530
00210454
DNA
SEQ
-
-
2
Jorge Oliveira
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