Global Variome shared LOVD
LAMB2 (laminin, beta 2 (laminin S))
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Curator:
Martin Zenker, Prof. Dr. med.
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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
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
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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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98 entries on 1 page. Showing entries 1 - 98.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000018829
00018845
DNA
SEQ;SEQ-NG-I
-
-
3
Elisabet Ars Criach
0000166075
00165197
DNA
SEQ
blood
exon panel NPHS1, NPHS2, WT1, LAMB2
1
Aiysha Abid
0000166122
00165201
DNA
SEQ
blood
exon panel NPHS1, NPHS2, WT1, LAMB2
1
Aiysha Abid
0000241343
00240240
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241344
00240241
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241345
00240242
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241346
00240243
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241347
00240244
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241348
00240245
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241349
00240246
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241350
00240247
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241351
00240248
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241352
00240249
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241353
00240250
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241354
00240251
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241355
00240252
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241356
00240253
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241357
00240254
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241358
00240255
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241359
00240256
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241360
00240257
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241361
00240258
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241362
00240259
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241363
00240260
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241364
00240261
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241365
00240262
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241366
00240263
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241367
00240264
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241368
00240265
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241369
00240266
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241370
00240267
DNA
SEQ
-
-
3
Martin Zenker, Prof. Dr. med.
0000241371
00240268
DNA
SEQ
-
-
3
Martin Zenker, Prof. Dr. med.
0000241372
00240269
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241373
00240270
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241374
00240271
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241375
00240272
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241376
00240273
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241377
00240274
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241378
00240275
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241379
00240276
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241380
00240277
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241381
00240278
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241382
00240279
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241383
00240280
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241384
00240281
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241385
00240282
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241386
00240283
DNA
SEQ
-
-
8
Martin Zenker, Prof. Dr. med.
0000241387
00240284
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241388
00240285
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241389
00240286
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241390
00240287
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241391
00240288
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241392
00240289
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241393
00240290
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241394
00240291
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241395
00240292
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241396
00240293
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241397
00240294
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241398
00240295
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241399
00240296
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241400
00240297
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241401
00240298
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241402
00240299
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241403
00240300
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241404
00240301
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241405
00240302
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241406
00240303
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241407
00240304
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241408
00240305
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241409
00240306
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241410
00240307
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241411
00240308
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241412
00240309
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241413
00240310
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241414
00240311
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241415
00240312
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241416
00240313
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241417
00240314
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241418
00240315
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241419
00240316
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241420
00240317
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241421
00240318
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000241422
00240319
DNA
SEQ
-
-
2
Martin Zenker, Prof. Dr. med.
0000241423
00240320
DNA
SEQ
-
-
1
Martin Zenker, Prof. Dr. med.
0000302170
00301048
DNA
SEQ-NG
blood
-
2
Matthias Braunisch
0000309097
00307953
DNA
SEQ;SEQ-NG
-
gene panel
1
Johan den Dunnen
0000316114
00314938
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
2
Aiysha Abid
0000316115
00314939
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
2
Aiysha Abid
0000316121
00314945
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316122
00314946
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316123
00314947
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316124
00314948
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316125
00314949
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316126
00314950
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316127
00314951
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316128
00314952
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000316129
00314953
DNA
SEQ
-
panel LAMB2, WT1, NPHS1, NPHS2
1
Aiysha Abid
0000333310
00332090
DNA
SEQ-NG
-
-
1
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